ClinVar Miner

Variants from Broad Institute Rare Disease Group, Broad Institute with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Broad Institute Rare Disease Group, Broad Institute: Collection method of the submission from Broad Institute Rare Disease Group, Broad Institute:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
672 256 25 257 89 9 150 469

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
Broad Institute Rare Disease Group, Broad Institute pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 23 95 8 1 0 1 0 1
likely pathogenic 103 1 19 2 1 0 0 0
uncertain significance 63 73 0 22 6 0 2 0
likely benign 6 2 44 0 25 0 3 0
benign 9 0 20 34 1 0 0 2

Submitter to submitter summary #

Total submitters: 119
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
Invitae 0 262 0 72 18 2 34 125
Counsyl 0 52 0 53 1 0 14 68
Illumina Clinical Services Laboratory,Illumina 0 56 0 30 31 0 4 65
OMIM 0 59 0 20 6 5 23 54
Integrated Genetics/Laboratory Corporation of America 0 92 0 25 2 0 15 42
LDLR-LOVD, British Heart Foundation 0 13 0 9 5 0 28 42
GeneReviews 0 28 24 5 1 0 6 36
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 8 0 6 2 0 18 26
Natera, Inc. 0 91 0 12 8 0 4 24
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 10 0 7 3 0 12 22
Color Health, Inc 0 27 0 3 5 0 12 20
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 9 0 6 0 0 13 19
Mendelics 0 20 0 5 7 0 4 16
Robarts Research Institute,Western University 0 8 0 6 1 0 9 16
Baylor Genetics 0 39 0 3 1 0 8 12
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 6 0 0 6 12
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 1 8 0 1 10
GeneDx 0 9 0 3 3 0 3 9
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 3 0 0 6 9
Iberoamerican FH Network 0 6 0 1 0 0 8 9
Genetic Services Laboratory, University of Chicago 0 11 0 4 1 1 2 8
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 4 0 3 0 0 5 8
Fundacion Hipercolesterolemia Familiar 0 12 0 3 0 0 5 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 13 0 5 2 0 0 7
PreventionGenetics, PreventionGenetics 0 4 0 4 2 0 0 6
Fulgent Genetics,Fulgent Genetics 0 25 0 5 0 0 1 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 1 0 0 4 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 3 0 0 2 5
Institute of Human Genetics, Klinikum rechts der Isar 0 8 0 3 0 0 2 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 6 0 2 0 0 3 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 5 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 4 0 4 1 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 14 0 1 2 0 1 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 1 0 0 3 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 3 0 0 1 4
Undiagnosed Diseases Network,NIH 0 4 0 1 0 0 3 4
Institute of Human Genetics, University of Leipzig Medical Center 0 11 0 0 0 0 4 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 0 1 0 0 3 4
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 5 0 2 0 0 2 4
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 0 32 0 3 0 0 1 4
Athena Diagnostics Inc 0 6 0 3 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 0 0 1 3
Centogene AG - the Rare Disease Company 0 6 0 2 0 0 1 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 9 0 0 3 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 1 0 0 0 2 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 2 0 0 1 3
Albrecht-Kossel-Institute,Medical University Rostock 0 6 0 0 1 0 2 3
UW Hindbrain Malformation Research Program,University of Washington 0 2 0 1 0 0 2 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 5 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 5 0 0 0 0 3 3
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 2 3
Reproductive Health Research and Development,BGI Genomics 0 2 0 0 1 0 2 3
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 2 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 3 0 0 0 3
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 3 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 1 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 0 0 1 0 1 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 2 0 0 0 2
Translational Genomics Laboratory,University of Maryland School of Medicine 0 2 0 0 0 0 2 2
Research and Development, ARUP Laboratories 0 0 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 1 0 2 0 0 0 2
Myriad Women's Health, Inc. 0 20 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 1 0 0 0 1
Claritas Genomics 0 0 0 1 0 0 0 1
Ambry Genetics 0 6 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 0 0 1
SNPedia 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Sydney Children's Hospital, SCHN 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 2 0 0 0 0 1 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 1 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 0 0 0 0 0 1 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 1 1
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, INSERM 0 1 0 0 0 0 1 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 5 0 1 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 1 0 0 0 1
Department of Pediatrics,Driscoll Children's Hospital 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Belal Azab Laboratory,The University of Jordan 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 0 0 0 0 1 1
Molecular Therapies Laboratory,Murdoch University 0 2 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
?Provincial Medical Genetics Program?,BC Women and Children's Hospital 0 0 0 0 0 0 1 1
Massachusetts General Hospital Undiagnosed Diseases Network,Massachusetts General Hospital 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 469
Download table as spreadsheet
HGVS dbSNP
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000078.3(CETP):c.663C>A (p.Ser221Arg) rs201438792
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) rs145035679
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1327-2A>G
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+1G>T rs770780848
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000157.4(GBA):c.475C>T (p.Arg159Trp) rs439898
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_000157.4(GBA):c.681T>G (p.Asn227Lys) rs381418
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.754T>A (p.Phe252Ile) rs381737
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.639+6A>C rs200096940
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959
NM_000222.2(KIT):c.67+4G>A rs72550820
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000239.2(LYZ):c.263C>A (p.Thr88Asn) rs1800973
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000298.6(PKLR):c.375+10G>T
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.5(HNF4A):c.998G>A (p.Arg333His) rs1375557127
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.4(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.4(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1846-10G>T rs368243304
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.2603G>A (p.Arg868His) rs750938678
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.1091+9C>T rs143612450
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001079823.2(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364
NM_001103.3(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001142966.2(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001807.5(CEL):c.1776del (p.Val593fs) rs193922638
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005781.4(TNK2):c.1912G>A (p.Val638Met) rs201407161
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys) rs149378938
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015166.3(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) rs139548132
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017951.4(SMPD4):c.1337C>T (p.Pro446Leu) rs747433356
NM_018116.3(MSTO1):c.836G>A (p.Arg279His) rs563943670
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819
NM_019109.4(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_020344.3(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604
NM_021729.5(VPS11):c.2536T>G (p.Cys846Gly) rs34757931
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024818.4(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_025114.4(CEP290):c.4438-3del rs747323414
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_032504.1(UNC80):c.8058+2T>G rs1575179679
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_032603.5(LOXL3):c.*908C>T rs72470545
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213599.2(ANO5):c.191dupA rs137854521
Single allele

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