ClinVar Miner

Variants from Department of Human Genetics, Hannover Medical School with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Department of Human Genetics, Hannover Medical School: Collection method of the submission from Department of Human Genetics, Hannover Medical School:
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
594 220 6 234 12 2 61 285

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
Department of Human Genetics, Hannover Medical School pathogenic likely pathogenic uncertain significance likely benign benign affects drug response
pathogenic 6 100 24 0 3 1 1
likely pathogenic 133 0 25 0 0 0 0
uncertain significance 4 8 0 9 3 0 0
likely benign 1 1 1 0 1 0 0

Submitter to submitter summary #

Total submitters: 194
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 0 111 2 52 10 0 9 73
OMIM 0 103 4 42 0 0 6 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 58 0 38 0 0 0 38
Baylor Genetics 0 87 0 34 0 0 2 36
Fulgent Genetics, Fulgent Genetics 0 75 0 32 0 0 2 34
Institute of Human Genetics, University of Leipzig Medical Center 0 76 0 19 0 0 3 22
Natera, Inc. 0 55 0 17 0 0 4 21
Counsyl 0 21 0 16 0 0 2 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 25 0 11 0 0 7 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 75 0 17 0 0 1 18
MGZ Medical Genetics Center 0 49 0 16 0 0 1 17
3billion 0 75 0 14 0 0 2 16
Genome-Nilou Lab 0 25 0 13 1 0 2 16
Myriad Genetics, Inc. 0 47 0 12 3 0 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 24 0 14 0 0 0 14
Mendelics 0 27 0 13 0 0 1 14
Revvity Omics, Revvity 0 50 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 16 0 10 0 0 3 13
Variantyx, Inc. 0 35 0 13 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 24 0 9 0 0 3 12
Institute of Human Genetics Munich, TUM University Hospital 0 24 0 10 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 25 0 10 0 0 0 10
Illumina Laboratory Services, Illumina 0 37 0 9 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 14 0 8 0 0 1 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 26 0 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 15 0 7 0 0 1 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 24 0 7 0 0 1 8
Genomics England Pilot Project, Genomics England 0 4 0 7 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 21 0 6 0 0 1 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 9 0 4 0 0 2 6
Johns Hopkins Genomics, Johns Hopkins University 0 10 0 6 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 21 0 5 0 0 1 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 10 0 3 0 0 2 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 11 0 5 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 15 0 3 0 0 2 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 6 0 4 0 0 1 5
Genetics and Molecular Pathology, SA Pathology 0 21 0 5 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 10 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 20 0 5 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 10 0 4 0 0 1 5
Undiagnosed Diseases Network, NIH 0 9 0 5 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 0 3 0 0 1 4
Color Diagnostics, LLC DBA Color Health 0 9 0 2 1 0 1 4
Institute of Immunology and Genetics Kaiserslautern 0 18 0 4 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 4 0 0 0 4
Solve-RD Consortium 0 3 0 4 0 0 0 4
All of Us Research Program, National Institutes of Health 0 14 0 3 0 0 0 3
Dasa 0 17 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 12 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 20 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 8 0 0 0 0 3 3
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 3 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 3 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 6 0 3 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 3 0 3 0 0 0 3
New York Genome Center 0 15 0 3 0 0 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 3 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 0 0 3 0 0 0 3
Ambry Genetics 0 8 0 1 0 0 1 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 2 0 0 0 2
Breast Cancer Information Core (BIC) (BRCA2) 0 9 0 0 0 0 2 2
Clinical Genomics Laboratory, Stanford Medicine 0 10 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 11 0 1 0 0 1 2
Department of Genetics, Sultan Qaboos University Hospital 0 6 0 2 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 2 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 3 0 1 0 0 1 2
Dunham Lab, University of Washington 0 0 0 1 1 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 1 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 16 0 2 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 3 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 15 0 2 0 0 0 2
Institute for Human Genetics, University Hospital Essen 0 1 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 1 0 0 1 2
Institute of Human Genetics, Heidelberg University 0 8 0 2 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 8 0 1 0 0 1 2
MVZ Martinsried, Medicover Genetics 0 1 0 1 0 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 7 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 2 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 10 0 2 0 0 0 2
Paris Brain Institute, Inserm - ICM 0 1 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 4 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 4 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 1 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 14 0 1 0 0 1 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 1 0 0 0 1
Alder lab, University of Pittsburgh 0 0 0 1 0 0 0 1
Arcensus 0 1 0 1 0 0 0 1
Athena Diagnostics 0 3 0 0 0 0 1 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 4 0 1 0 0 0 1
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 5 0 1 0 0 0 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 2 0 1 0 0 0 1
Bristol Genetics Laboratory, North Bristol NHS Trust 0 0 0 1 0 0 0 1
CFTR-France 0 2 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 4 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 0 1 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 4 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 3 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 11 0 1 0 0 0 1
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
ClinPGx 0 0 0 0 0 1 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 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 Genetics Laboratory, Exon Genomics 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 5 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 3 0 1 0 0 0 1
Clinical Genomics, G42 Labs 0 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 5 0 1 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 6 0 1 0 0 0 1
Credence Genomics 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 11 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 1 0 1 0 0 0 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 1 0 1 0 0 0 1
Department of Otolaryngology Head and Neck Surgery, Hainan Hospital of the Chinese People’s Liberation Army General Hospital 0 3 0 1 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 1 1
Department of Pediatrics, Gifu University 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 12 0 1 0 0 0 1
Geisinger Clinic, Geisinger Health System 0 0 0 1 0 0 0 1
GeneKor MSA 0 2 0 0 0 0 1 1
Genesis Genomics 0 6 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 8 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 3 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 1 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 10 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 5 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 10 0 1 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 0 0 1 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 0 8 0 1 0 0 0 1
Immunodeficiencies, Instituto Nacional de Pediatria 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 0 0 0 0 1 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 0 1
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University 0 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 3 0 1 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 0 1 0 0 0 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 1 0 0 0 0 1 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 3 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 2 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 2 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 2 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 1 0 0 0 1
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University 0 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 1 0 0 0 1
Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences 0 0 0 0 0 0 1 1
RettBASE 0 2 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 0 1 0 0 0 1
Suma Genomics 0 4 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 285
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00034
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00029
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00020
NM_001014437.3(CARS1):c.1955T>A (p.Phe652Tyr) rs781761299 0.00019
NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys) rs144028775 0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00015
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00013
NM_000368.5(TSC1):c.2209-3T>C rs368309229 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_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00008
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00007
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00005
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_080860.4(RSPH1):c.727+5G>A rs200382776 0.00005
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly) rs764268346 0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00002
NM_000429.3(MAT1A):c.271G>A (p.Gly91Ser) rs1202204033 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00002
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000166.6(GJB1):c.-103C>T rs863224971 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter) rs761406918 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000429.3(MAT1A):c.968G>A (p.Gly323Asp) rs775897759 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met) rs371035540 0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00001
NM_003119.4(SPG7):c.1923C>T (p.Asn641=) rs1482532650 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) rs368743618 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020 0.00001
NM_032930.3(CFAP300):c.776A>G (p.His259Arg) rs1555071691 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=) rs1424732133 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
Multiple alleles
NC_000011.10:g.17634839_17634845dup rs1295062471
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val) rs2139076990
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000038.6(APC):c.5038_5039del (p.Gln1680fs)
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000053.4(ATP7B):c.1073del (p.Cys358fs) rs1951985366
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) rs2072507154
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000061.3(BTK):c.829G>T (p.Glu277Ter) rs868983143
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr) rs2053485296
NM_000088.4(COL1A1):c.2037_2038del (p.Gly680fs)
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter) rs1823212414
NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) rs794728166
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000166.6(GJB1):c.260C>G (p.Pro87Arg)
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu) rs104894637
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala) rs62508646
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile) rs869312997
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) rs776178623
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer) rs2493711950
NM_000372.5(TYR):c.98A>C (p.Lys33Thr) rs1451372078
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg) rs765570396
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr) rs2512514994
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) rs1568425218
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter) rs2544812084
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His) rs796053374
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu) rs878853885
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys) rs398123046
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) rs63751438
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter) rs2125623360
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004360.5(CDH1):c.49-19T>C rs1555509751
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005677.4(COLQ):c.827_843del (p.Met276fs) rs2470828887
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) rs1554129113
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_006147.4(IRF6):c.870_888delinsA (p.Phe290_Asp296delinsLeu) rs587776569
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006565.4(CTCF):c.1573T>G (p.Cys525Gly)
NM_006766.5(KAT6A):c.441dup (p.Arg148fs) rs2487060716
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter) rs2519101342
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr) rs2148753672
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) rs368196005
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_022445.4(TPK1):c.179_182del (p.Arg60fs) rs1563989427
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024884.3(L2HGDH):c.528G>T (p.Glu176Asp) rs2029895356
NM_025237.3(SOST):c.61G>A (p.Val21Met) rs387907169
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs) rs2527894074
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer) rs781156334
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) rs587784056
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.1142C>T (p.Ala381Val)
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NR_023343.3(RNU4ATAC):n.50G>A rs181195449

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