ClinVar Miner

Variants from Laboratory of Medical Genetics, National & Kapodistrian University of Athens with conflicting interpretations

Location: Greece  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
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
748 365 2 349 13 2 126 427

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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 1 269 54 5 2 0
likely pathogenic 80 1 57 6 3 1
uncertain significance 5 4 0 8 6 0
likely benign 0 0 2 0 0 0
affects 1 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 195
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
Counsyl 0 45 0 54 1 0 31 86
Labcorp Genetics (formerly Invitae), Labcorp 0 277 1 38 7 0 24 70
Genome-Nilou Lab 0 72 0 30 2 0 9 41
Natera, Inc. 0 192 0 31 3 0 7 41
Fulgent Genetics, Fulgent Genetics 0 159 0 33 0 0 7 40
Baylor Genetics 0 197 0 30 0 1 8 39
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 57 0 25 1 0 5 31
3billion 0 164 0 24 0 1 2 27
OMIM 0 214 0 21 0 0 2 23
Institute of Human Genetics, University of Leipzig Medical Center 0 98 0 20 0 0 2 22
Myriad Genetics, Inc. 0 73 0 18 2 0 2 22
Revvity Omics, Revvity 0 115 0 17 0 0 5 22
Mendelics 0 61 0 12 0 1 8 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 175 0 20 0 0 0 20
Department of Pathology and Laboratory Medicine, Sinai Health System 0 48 0 9 0 0 10 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 131 0 12 0 0 7 19
Department of Human Genetics, Hannover Medical School 0 24 0 14 0 0 0 14
Illumina Laboratory Services, Illumina 0 69 0 5 1 0 8 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 31 0 8 1 0 3 12
Variantyx, Inc. 0 58 1 10 0 0 0 11
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 52 0 10 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 40 0 5 0 1 3 9
Institute of Human Genetics Munich, TUM University Hospital 0 55 0 9 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 0 44 0 9 0 0 0 9
MGZ Medical Genetics Center 0 57 0 9 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 56 0 5 0 0 4 9
Genomics England Pilot Project, Genomics England 0 6 0 8 0 0 0 8
Ambry Genetics 0 9 0 5 0 0 2 7
Center for Medical Genetics Ghent, University of Ghent 0 5 0 2 0 0 5 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 23 0 6 0 0 1 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 30 0 4 0 0 2 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 21 0 4 1 0 1 6
SIB Swiss Institute of Bioinformatics 0 8 0 6 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 17 0 3 0 0 2 5
Color Diagnostics, LLC DBA Color Health 0 10 0 1 2 0 2 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 15 0 5 0 0 0 5
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 1 0 4 0 0 1 5
Lifecell International Pvt. Ltd 0 12 0 5 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 5 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 0 12 0 3 1 1 0 5
UCLA Clinical Genomics Center, UCLA 0 5 0 5 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 16 0 3 0 0 1 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 5 0 4 0 0 0 4
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 1 0 3 1 0 0 4
Dasa 0 17 0 4 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 0 10 0 3 0 0 1 4
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 9 0 1 0 0 3 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 16 0 4 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 7 0 4 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 16 0 4 0 0 0 4
Robarts Research Institute, Western University 0 1 0 3 1 0 0 4
Suma Genomics 0 7 0 2 0 0 2 4
All of Us Research Program, National Institutes of Health 0 14 0 0 1 0 2 3
Arcensus 0 1 0 3 0 0 0 3
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 1 0 2 0 0 1 3
CFTR2 0 7 0 3 0 0 0 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 1 1 0 1 3
Centre of Medical Genetics, University of Antwerp 0 3 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 7 0 3 0 0 0 3
Eurofins-Biomnis 0 0 0 3 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 46 0 2 0 1 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 11 0 2 0 0 1 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 7 0 1 0 0 2 3
Genetics and Molecular Pathology, SA Pathology 0 28 0 3 0 0 0 3
Giacomini Lab, University of California, San Francisco 0 1 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 35 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 12 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 16 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 13 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 3 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 25 0 2 0 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 26 0 3 0 0 0 3
LDLR-LOVD, British Heart Foundation 0 2 0 2 1 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 8 0 2 0 0 1 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 33 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 13 0 3 0 0 0 3
Solve-RD Consortium 0 0 0 3 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 13 0 2 0 1 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 16 0 2 0 0 1 3
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 2 0 0 0 2
American College of Medical Genetics and Genomics (ACMG) 0 4 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 9 0 2 0 0 0 2
CFTR-France 0 5 0 2 0 0 0 2
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 1 2
ClinGen PAH Variant Curation Expert Panel 0 16 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 1 0 0 1 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 4 0 2 0 0 0 2
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 2 0 1 0 1 0 2
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 1 0 1 0 0 1 2
Department of Genetics, Sultan Qaboos University Hospital 0 5 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 1 0 2 0 0 0 2
GeneKor MSA 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 33 0 2 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 3 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 12 0 0 0 0 2 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 2 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 9 0 2 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 8 0 2 0 0 0 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Institute of Human Genetics, Heidelberg University 0 9 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 6 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 3 0 1 1 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 1 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 2 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 10 0 2 0 0 0 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 3 0 2 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 0 1 0 0 1 2
OLLIN Analises Genomicas, OLLIN 0 11 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 1 0 0 1 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 3 0 1 0 0 1 2
Undiagnosed Diseases Network, NIH 0 9 0 2 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 5 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 1 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 3 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 3 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 8 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 3 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 2 0 1 0 0 0 1
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
ClinPGx 0 0 0 0 0 1 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 7 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 9 0 0 0 0 1 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 4 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 9 0 1 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 0 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 2 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 2 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 3 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 5 0 0 0 0 1 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 4 0 0 0 0 1 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 1 0 1 0 0 0 1
GeneDx 0 1 0 1 0 0 0 1
GeneReviews 0 101 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 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 3 0 1 0 0 0 1
Genetics Department, Hospital Ramon y Cajal-IRYCIS 0 0 0 0 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 9 0 0 0 0 1 1
GenomeConnect - Simons Searchlight 0 2 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 10 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 6 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 0 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 0 1 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 4 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 2 0 1 0 0 0 1
Iberoamerican FH Network 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 2 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 2 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 2 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 2 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 1 0 0 0 1
Leiden Open Variation Database 0 3 0 1 0 0 0 1
Medical Genetics, Christian Medical College 0 0 0 1 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 1 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 4 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 10 0 1 0 0 0 1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 0 0 1 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 1 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurology Department, Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
New York Genome Center 0 19 0 1 0 0 0 1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 0 0 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 0 0 0 0 0 1 1
Pars Genome Lab 0 1 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 0 2 0 1 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 2 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 12 0 1 0 0 0 1
RettBASE 0 3 0 1 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 7 0 0 0 0 1 1
Synevo Romania 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 427
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln) rs35865357 0.01132
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00501
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00184
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00111
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00049
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00044
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00030
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs) rs767882166 0.00022
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 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_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys) rs201888856 0.00005
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu) rs565447853 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_021120.4(DLG3):c.251C>T (p.Pro84Leu) rs374006597 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) rs121434300 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289 0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.900+2T>G rs2091712381
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter) rs1057516620
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000136.3(FANCC):c.166-2A>G rs587777945
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys) rs2124404743
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) rs121918674
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn) rs2131227936
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu) rs1024923221
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000937.5(POLR2A):c.778G>A (p.Val260Met) rs887367647
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly) rs1021835871
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) rs1291061962
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) rs751205887
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001918.5(DBT):c.881T>G (p.Leu294Ter) rs2524147444
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003070.5(SMARCA2):c.1541A>G (p.Tyr514Cys) rs2537278093
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004006.3(DMD):c.10087-2A>G rs1569420861
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9563+1215A>G rs2521364194
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr) rs756333430
NM_005859.5(PURA):c.224T>G (p.Leu75Arg) rs1554129049
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_016180.5(SLC45A2):c.1435del (p.Leu479fs) rs2478762696
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_144687.4(NLRP12):c.2072+1G>C rs766603266
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) rs756420301
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_153717.3(EVC):c.801+1G>T rs1447653524
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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