ClinVar Miner

Variants from Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub with conflicting interpretations

Location: United Kingdom  Primary collection method: clinical testing
Minimum review status of the submission from Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub: Collection method of the submission from Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub:
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
700 379 5 300 12 5 165 402

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
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub pathogenic likely pathogenic uncertain significance likely benign benign association drug response other
pathogenic 5 140 36 5 0 0 0 0
likely pathogenic 159 0 84 9 2 0 1 2
uncertain significance 25 34 0 7 7 2 0 1
benign 0 0 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 145
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 0 269 1 103 6 0 45 155
GeneDx 0 324 0 54 2 0 47 103
CeGaT Center for Human Genetics Tuebingen 0 150 0 30 5 0 18 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 57 0 26 4 0 16 46
PreventionGenetics, part of Exact Sciences 0 134 0 27 2 0 13 42
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 33 0 37 0 0 2 39
Revvity Omics, Revvity 0 146 0 25 0 0 11 36
LDLR-LOVD, British Heart Foundation 0 72 0 24 0 0 8 32
Mayo Clinic Laboratories, Mayo Clinic 0 94 0 19 0 0 11 30
Eurofins Ntd Llc (ga) 0 66 0 14 2 1 12 29
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 25 0 16 0 0 12 28
Color Diagnostics, LLC DBA Color Health 0 46 0 13 0 0 11 24
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 59 0 10 1 0 13 24
Robarts Research Institute, Western University 0 13 0 20 0 0 4 24
Natera, Inc. 0 36 0 16 0 0 4 20
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 27 0 7 0 0 11 18
Quest Diagnostics Nichols Institute San Juan Capistrano 0 109 0 14 0 0 4 18
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 14 0 7 0 0 10 17
Dasa 0 43 0 10 0 0 7 17
Fundacion Hipercolesterolemia Familiar 0 18 0 6 0 0 11 17
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 23 0 15 0 0 1 16
Athena Diagnostics 0 50 0 11 2 0 2 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 74 0 11 0 0 4 15
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 31 0 15 0 0 0 15
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 15 0 5 0 0 9 14
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 24 0 12 0 0 1 13
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 57 0 9 0 0 3 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 19 0 12 0 0 0 12
All of Us Research Program, National Institutes of Health 0 45 0 7 0 0 4 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 53 0 9 0 0 2 11
Clinical Genetics Laboratory, Skane University Hospital Lund 0 68 0 10 0 0 1 11
Fulgent Genetics, Fulgent Genetics 0 24 0 8 0 0 3 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 28 0 7 0 0 4 11
OMIM 0 25 4 3 0 2 2 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 9 0 4 0 0 6 10
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 22 0 8 0 0 2 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 74 0 7 0 0 2 9
Iberoamerican FH Network 0 11 0 5 0 0 4 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 47 0 5 0 0 4 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 32 0 2 0 0 6 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 30 0 5 0 0 3 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 19 0 3 0 0 5 8
Illumina Laboratory Services, Illumina 0 24 0 6 1 0 1 8
Genetic Services Laboratory, University of Chicago 0 25 0 4 0 2 1 7
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 5 0 0 2 7
Mendelics 0 5 0 2 2 0 3 7
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 8 0 5 0 0 1 6
Genome-Nilou Lab 0 6 0 2 0 0 4 6
Genomenon, Inc, Genomenon, Inc 0 8 0 3 0 0 3 6
Gharavi Laboratory, Columbia University 0 6 0 5 0 0 1 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 26 0 4 0 0 2 6
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 13 0 6 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 0 2 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 46 0 4 0 0 1 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 15 0 3 0 0 2 5
Clinical Genetics and Genomics, Karolinska University Hospital 0 36 0 5 0 0 0 5
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 2 0 0 3 5
Variantyx, Inc. 0 18 0 3 0 0 2 5
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 35 0 4 0 0 0 4
Clinical Genetics, Academic Medical Center 0 14 0 3 0 0 1 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 19 0 2 0 0 2 4
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 3 0 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 10 0 2 0 0 2 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 25 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 14 0 3 0 0 1 4
3billion 0 12 0 3 0 0 0 3
Baylor Genetics 0 6 0 1 0 0 2 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 5 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 25 0 3 0 0 0 3
NHS Central & South Genomic Laboratory Hub 0 23 0 3 0 0 0 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 0 1 0 3 0 0 0 3
Ambry Genetics 0 7 0 1 0 0 1 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 0 1 0 0 1 2
Blueprint Genetics 0 8 0 2 0 0 0 2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 0 0 1 0 0 1 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 1 2
Centre of Medical Genetics, University Hospital Muenster 0 8 0 1 0 0 1 2
Constitutional Genetics Lab, Leon Berard Cancer Center 0 3 0 2 0 0 0 2
GENinCode PLC 0 9 0 2 0 0 0 2
GeneKor MSA 0 8 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 1 0 0 1 2
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 21 0 2 0 0 0 2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 1 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 20 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 0 1 0 0 1 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 17 0 2 0 0 0 2
MGZ Medical Genetics Center 0 7 0 1 0 0 1 2
Molecular Genetics, Royal Melbourne Hospital 0 3 0 1 0 0 1 2
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 6 0 1 0 0 0 1
Arcensus 0 1 0 1 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 1 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 0 0 0 0 1 1
ClinPGx 0 0 0 0 0 1 0 1
Clingen PTEN Variant Curation Expert Panel, Clingen 0 2 0 1 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 22 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 1 0 0 0 1
Counsyl 0 3 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 19 0 1 0 0 0 1
GenMed Metabolism Lab 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 6 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 13 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 0 1
Institute of Reproductive Genetics, University of Münster 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 1 0 0 0 1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
Leiden Open Variation Database 0 5 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 1 0 0 0 1
Myriad Genetics, Inc. 0 4 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 0 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 0 0 0 1 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 402
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_004608.4(TBX6):c.1227G>A (p.Pro409=) rs2289292 0.26284
NM_004608.4(TBX6):c.-48-240A>G rs3809624 0.25668
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00953
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_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
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_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00219
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00108
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_007186.6(CEP250):c.493-1G>A rs200083040 0.00058
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_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00030
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00012
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001139.3(ALOX12B):c.1654+3A>G rs371537819 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00005
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00005
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) rs2915791 0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00004
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) rs142781546 0.00004
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys) rs746118995 0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs373822756 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) rs267607051 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) rs201356558 0.00003
NM_004614.5(TK2):c.156+2T>C rs281865499 0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 0.00003
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00003
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00003
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) rs764078087 0.00003
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000527.5(LDLR):c.-153C>T rs879254366 0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg) rs150021927 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NC_000019.10:g.11089358C>A rs934415028 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile) rs766249735 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 0.00001
NM_000159.4(GCDH):c.1064G>A (p.Arg355His) rs748275416 0.00001
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu) rs1555984858 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp) rs879254797 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415 0.00001
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) rs778284147 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys) rs1221971156 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 0.00001
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000782.5(CYP24A1):c.400T>G (p.Trp134Gly) rs1170841548 0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln) rs769709112 0.00001
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) rs914435870 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys) rs781800676 0.00001
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser) rs757504416 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00001
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr) rs575453513 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_032119.4(ADGRV1):c.1054C>A (p.Pro352Thr) rs755371825 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_144672.4(OTOA):c.1727T>C (p.Ile576Thr) rs755291566 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_000043.6(FAS):c.785T>C (p.Ile262Thr) rs483352683
NM_000051.4(ATM):c.349del (p.Cys117fs)
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2976del (p.Lys992fs) rs1060502391
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000083.3(CLCN1):c.1696G>A (p.Ala566Thr)
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000092.5(COL4A4):c.3205G>A (p.Gly1069Arg)
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter) rs1367906290
NM_000126.4(ETFA):c.3G>A (p.Met1Ile)
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000169.3(GLA):c.1225C>A (p.Pro409Thr)
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.154T>G (p.Cys52Gly) rs1057521047
NM_000169.3(GLA):c.898C>T (p.Leu300Phe) rs2147472132
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3385T>C (p.Cys1129Arg) rs1060502905
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000260.4(MYO7A):c.262C>T (p.Arg88Cys) rs1405840651
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000414.4(HSD17B4):c.113-2241A>T
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000459.5(TEK):c.2744G>A (p.Arg915His) rs387906745
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000474.4(TWIST1):c.380C>T (p.Ala127Val)
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe) rs193922566
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg) rs773064328
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg) rs2516005878
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1463T>G (p.Ile488Ser) rs879254913
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro) rs879254920
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.5(LDLR):c.1864G>C (p.Asp622His) rs879255059
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.2068dup (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) rs879255136
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389+2T>G rs879255188
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.905G>T (p.Cys302Phe) rs879254715
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000531.6(OTC):c.1028C>T (p.Thr343Ile) rs72558491
NM_000531.6(OTC):c.416T>C (p.Leu139Ser) rs72556259
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del) rs61759913
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001122659.3(EDNRB):c.596+1G>A rs1879111145
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001142864.4(PIEZO1):c.3053A>G (p.His1018Arg)
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004086.3(COCH):c.1477+1G>C
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004963.4(GUCY2C):c.784C>T (p.Arg262Ter) rs762829348
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005982.4(SIX1):c.533G>C (p.Arg178Thr) rs1236315675
NM_006005.3(WFS1):c.2038_2040del (p.Glu680del) rs1730936877
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006346.4(PIBF1):c.1974_1977del (p.Asn658fs) rs146814641
NM_006767.4(LZTR1):c.2376C>A (p.Cys792Ter)
NM_006941.4(SOX10):c.1086dup (p.Pro363fs) rs2145761047
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_012208.4(HARS2):c.69del (p.Cys24fs) rs761489812
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) rs1449351602
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) rs1174503300
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) rs199469632
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu) rs2533173502
NM_024675.4(PALB2):c.682del (p.Gln228fs) rs1567222523
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032119.4(ADGRV1):c.1547G>A (p.Gly516Asp) rs1265814223
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) rs2147806122
NM_033380.3(COL4A5):c.1966G>A (p.Gly656Ser)
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.1323dup (p.Thr442fs) rs771252983
NM_053274.3(GLMN):c.971dup (p.Leu324fs) rs2100916637
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_080680.3(COL11A2):c.2376+1G>A rs2150565478
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) rs876657716
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1440del (p.Thr481fs) rs1597579055
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) rs553956503

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