ClinVar Miner

Variants from Institute of Human Genetics Munich, TUM University Hospital with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics Munich, TUM University Hospital: Collection method of the submission from Institute of Human Genetics Munich, TUM University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1227 548 7 475 0 3 148 578

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Institute of Human Genetics Munich, TUM University Hospital pathogenic likely pathogenic uncertain significance likely benign benign affects drug response
pathogenic 7 359 61 2 0 1 2
likely pathogenic 116 0 84 4 1 0 0

Submitter to submitter summary #

Total submitters: 230
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 235 1 50 0 0 35 86
Revvity Omics, Revvity 0 88 0 30 0 0 7 37
Institute of Human Genetics, University of Leipzig Medical Center 0 134 0 31 0 0 5 36
OMIM 0 388 6 28 0 0 1 35
Fulgent Genetics, Fulgent Genetics 0 117 0 29 0 0 4 33
Baylor Genetics 0 165 0 25 0 0 7 32
3billion 0 209 0 22 0 0 5 27
MGZ Medical Genetics Center 0 79 0 21 0 0 6 27
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 161 0 20 0 0 6 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 150 0 24 0 0 1 25
Counsyl 0 21 0 18 0 0 6 24
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 55 0 20 0 0 2 22
Genome-Nilou Lab 0 36 0 16 0 0 4 20
Solve-RD Consortium 0 0 0 20 0 0 0 20
Natera, Inc. 0 85 0 17 0 0 2 19
Illumina Laboratory Services, Illumina 0 59 0 9 0 0 9 18
SIB Swiss Institute of Bioinformatics 0 12 0 17 0 0 1 18
Mendelics 0 69 0 11 0 0 4 15
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 39 0 8 0 0 6 14
Genomics England Pilot Project, Genomics England 0 11 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 25 0 9 0 0 4 13
Genetic Services Laboratory, University of Chicago 0 31 0 12 0 0 1 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 39 0 11 0 0 1 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 33 0 9 0 0 2 11
Variantyx, Inc. 0 69 0 11 0 0 0 11
Department of Human Genetics, Hannover Medical School 0 24 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 65 0 6 0 0 4 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 36 0 8 0 0 1 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 55 0 9 0 0 0 9
Kariminejad - Najmabadi Pathology & Genetics Center 0 8 0 7 0 0 1 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 19 0 8 0 0 0 8
GeneDx 0 8 0 4 0 0 3 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 32 0 7 0 0 0 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 5 0 0 2 7
New York Genome Center 0 25 0 4 0 0 3 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 32 1 4 0 0 1 6
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 5 0 5 0 0 1 6
All of Us Research Program, National Institutes of Health 0 13 0 4 0 0 1 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 25 0 3 0 0 2 5
Color Diagnostics, LLC DBA Color Health 0 11 0 5 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 39 0 5 0 0 0 5
Fundacion Hipercolesterolemia Familiar 0 0 0 3 0 0 2 5
Genetics and Molecular Pathology, SA Pathology 0 31 0 5 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 23 0 4 0 0 1 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 33 0 5 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 3 0 5 0 0 0 5
Myriad Genetics, Inc. 0 45 0 4 0 0 1 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 5 0 0 0 5
Suma Genomics 0 8 0 4 0 0 1 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 37 0 4 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 16 0 4 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 12 0 4 0 0 0 4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 2 0 0 2 4
Centre of Medical Genetics, University Hospital Muenster 0 6 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 12 0 2 0 0 2 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 4 0 0 0 4
Institute of Human Genetics, Heidelberg University 0 19 0 4 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 18 0 3 0 0 1 4
LDLR-LOVD, British Heart Foundation 0 5 0 4 0 0 0 4
Lifecell International Pvt. Ltd 0 12 0 4 0 0 0 4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 3 0 3 0 0 1 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 21 0 4 0 0 0 4
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 4 0 0 0 4
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 4 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 12 0 3 0 0 0 3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 5 0 3 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 12 0 1 0 0 2 3
Hadassah Hebrew University Medical Center 0 4 0 3 0 0 0 3
Iberoamerican FH Network 0 0 0 1 0 0 2 3
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 3 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 14 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 3 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 3 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 15 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 19 0 3 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 5 0 2 0 0 1 3
RettBASE 0 7 0 1 0 0 2 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 0 19 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 17 0 2 0 0 1 3
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 11 0 2 0 0 0 2
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 6 0 1 0 0 1 2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 2 0 0 0 2
ClinPGx 0 0 0 0 0 2 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 11 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 18 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 8 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 9 0 2 0 0 0 2
Eurofins-Biomnis 0 3 0 1 0 0 1 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 37 0 2 0 0 0 2
GENinCode PLC 0 1 0 2 0 0 0 2
Geisinger Clinic, Geisinger Health System 0 2 0 2 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 2 0 0 0 2
Genetics Department, Catlab 0 1 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 11 0 2 0 0 0 2
GenomeConnect - Simons Searchlight 0 4 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 8 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 21 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 0 4 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 18 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 9 0 2 0 0 0 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 2 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 7 0 1 0 0 1 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 3 0 2 0 0 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 4 0 1 0 0 1 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 2 2
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 0 10 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 11 0 1 0 0 1 2
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 5 0 2 0 0 0 2
Robarts Research Institute, Western University 0 2 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 3 0 2 0 0 0 2
Ambry Genetics 0 8 0 0 0 0 1 1
Arcensus 0 1 0 1 0 0 0 1
Athena Diagnostics 0 2 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 6 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Blueprint Genetics 0 4 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 5 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 2 0 0 0 0 1 1
Breda Genetics srl, Breda Genetics srl 0 4 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 5 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 5 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 11 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 12 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 6 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 7 0 1 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 5 0 1 0 0 0 1
Dasa 0 27 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 1 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 4 0 1 0 0 0 1
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital 0 0 0 0 0 0 1 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 1 0 0 0 1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 0 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 4 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 1 0 0 0 1
Département de Neurologie, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 0 1 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 0 0 0 1 0 0 0 1
Fondazione Telethon, Telethon Institute of Genetics and Medicine 0 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
GeneReviews 0 122 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 4 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 1 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 3 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 9 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 0 1
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 5 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 2 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 3 0 1 0 0 0 1
Inheritance Genetic Center 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 4 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 8 0 1 0 0 0 1
Institute of Bioinformatics 0 0 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 24 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 2 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 4 0 0 0 0 1 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 1 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1 1
MVZ Medizinische Genetik Mainz 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 5 0 0 0 0 1 1
Medical Genetics, University of Parma 0 1 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 1 0 0 0 1
Medical Molecular Genetics, National Research Centre 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 11 0 1 0 0 0 1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 0 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 1 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 1 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 1 0 0 0 1
Neurogenetics Laboratory, Gh Pitie Salpetriere Aphp 0 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 2 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 3 0 1 0 0 0 1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research 0 6 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 20 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 1 1
Precision Medicine Center, Zhengzhou University 0 2 0 1 0 0 0 1
Principal Investigator Group 2, Tianjin Key Laboratory of Human Development and Reproductive Regulation, Tianjin Central Hospital of Gynecology and Obstetrics 0 0 0 1 0 0 0 1
Reproductive Endocrine Unit, Massachusetts General Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 7 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 9 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 1 0 1 0 0 0 1
Wonkam Laboratory, Johns Hopkins University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 2 0 1 0 0 0 1
deCODE genetics, Amgen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 578
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00087
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00078
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00032
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_007241.4(SNF8):c.304G>A (p.Val102Ile) rs200399045 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00010
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00007
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly) rs778264897 0.00007
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) rs121908026 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00002
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000166.6(GJB1):c.-103C>T rs863224971 0.00001
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000289.6(PFKM):c.843+5G>A rs759413488 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly) rs1272250863 0.00001
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys) rs1579198426 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys) rs2480252837 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_004183.4(BEST1):c.932T>G (p.Val311Gly) rs1941820458 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005993.5(TBCD):c.2006+5G>A rs1284192515 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_014297.5(ETHE1):c.375+5G>A rs769259233 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00001
NM_016123.4(IRAK4):c.333del (p.Leu112fs) rs766515269 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) rs912256328 0.00001
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000161.3(GCH1):c.317C>G (p.Thr106Ser)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000162.5(GCK):c.878T>G (p.Ile293Arg) rs2128820046
NM_000166.6(GJB1):c.260C>G (p.Pro87Arg)
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.506-2A>G rs397516057
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile) rs2059038310
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly) rs886042089
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile) rs2475916759
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001035.3(RYR2):c.12001G>A (p.Asp4001Asn) rs1553322501
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys) rs1579198447
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001172509.2(SATB2):c.262C>T (p.Arg88Trp)
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp) rs1948327010
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001281740.3(FHOD3):c.1646+2T>C rs2517826070
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs) rs1601319352
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349338.3(FOXP1):c.1426_1428+1del rs1575803923
NM_001353345.2(SETD1B):c.5828A>G (p.Tyr1943Cys) rs1877026008
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter) rs2522546758
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs) rs1553342984
NM_002361.4(MAG):c.1058C>T (p.Pro353Leu) rs778356275
NM_002361.4(MAG):c.1522C>T (p.Arg508Ter) rs2066519362
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003849.4(SUCLG1):c.137C>T (p.Ser46Phe) rs1287269389
NM_004006.3(DMD):c.78T>G (p.Asn26Lys) rs794727272
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004519.4(KCNQ3):c.328_329del (p.Leu110fs) rs2537398102
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys) rs780489988
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006236.3(POU3F3):c.398_407del (p.Pro133fs) rs1573320043
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys) rs2470938044
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe) rs149407452
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg) rs1564077207
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014974.3(DIP2C):c.4615C>T (p.Arg1539Ter) rs1954570162
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) rs1599368323
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu)
NM_016148.5(SHANK1):c.3142C>T (p.Arg1048Ter) rs1210431144
NM_016495.6(TBC1D7):c.747dup (p.Val250fs) rs1554192525
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs) rs2488108726
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018105.3(THAP1):c.11C>T (p.Ser4Phe) rs2487042279
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018105.3(THAP1):c.43_45del (p.Asp15del) rs1478723907
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020320.5(RARS2):c.1237+1G>A rs759922477
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs) rs745688425
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022489.4(INF2):c.529C>T (p.Arg177Cys) rs1595166085
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter) rs957683798
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) rs1590658782
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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