ClinVar Miner

Variants from SIB Swiss Institute of Bioinformatics with conflicting interpretations

Location: Switzerland — Primary collection method: curation
Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
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
272 188 5 368 25 0 115 494

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
SIB Swiss Institute of Bioinformatics pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 9 1 0 0
likely pathogenic 319 0 15 1 1
uncertain significance 87 13 0 9 7
likely benign 0 1 6 0 10
benign 0 0 6 30 0

Submitter to submitter summary #

Total submitters: 94
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
OMIM 0 111 0 286 0 0 79 365
Invitae 0 36 0 32 12 0 6 50
Illumina Clinical Services Laboratory,Illumina 0 44 0 21 13 0 2 36
GeneReviews 0 17 5 17 0 0 6 28
Baylor Genetics 0 17 0 17 1 0 6 24
Natera, Inc. 0 18 0 14 4 0 1 19
Mendelics 0 13 0 7 3 0 4 14
Institute of Human Genetics, Klinikum rechts der Isar 0 9 0 11 0 0 2 13
Institute of Human Genetics, University of Leipzig Medical Center 0 9 0 7 0 0 6 13
Integrated Genetics/Laboratory Corporation of America 0 5 0 10 1 0 1 12
Fulgent Genetics,Fulgent Genetics 0 7 0 10 0 0 1 11
Genetic Services Laboratory, University of Chicago 0 10 0 9 0 0 1 10
Counsyl 0 14 0 8 1 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 6 0 0 0 6
Myriad Women's Health, Inc. 0 6 0 5 0 0 1 6
Broad Institute Rare Disease Group, Broad Institute 0 4 0 4 1 0 0 5
Paris Brain Institute,Inserm - ICM 0 3 0 5 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 6 0 2 2 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 2 0 0 2 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 2 0 0 2 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 10 0 3 1 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 5 0 2 0 0 2 4
Athena Diagnostics Inc 0 8 0 3 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 1 2 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 2 0 0 1 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 2 3
Johns Hopkins Genomics, Johns Hopkins University 0 3 0 2 1 0 0 3
Clinical Genomics Program, Stanford Medicine 0 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 1 2
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 1 0 0 1 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 2 0 0 0 2
New York Genome Center 0 1 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 0 1 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 1 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 12 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Nyegaard lab; Aarhus University 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 1 0 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 1 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Research and Development, ARUP Laboratories 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 1 0 1 0 0 0 1
Sandor Lifesciences Pvt Ltd 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 5 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 1 0 0 0 1
CFTR-France 0 0 0 0 1 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 1 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 0 1
Department of Medical Genetics,Hue University of Medicine and Pharmacy 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 0 0 0 0 0 1 1
CMT Laboratory,Bogazici University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 494
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000125.3(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000409.4(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_000409.4(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001031726.3(C19orf12):c.32C>T (p.Thr11Met) rs397514477
NM_001031726.3(C19orf12):c.425A>C (p.Lys142Thr) rs79915936
NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) rs888630930
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg)
NM_001083619.3(GRIA2):c.1831G>A rs1553956958
NM_001083619.3(GRIA2):c.1915G>T rs1579377564
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)
NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.3(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.3(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser)
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145112.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378
NM_001145112.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219
NM_001145112.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001145112.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547
NM_001145112.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285
NM_001160036.2(RHOBTB2):c.1421C>G (p.Ala474Gly) rs1554504656
NM_001160036.2(RHOBTB2):c.1448G>A (p.Arg483His) rs1554504663
NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys) rs1563292586
NM_001160036.2(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) rs137852639
NM_001166107.1(HMGCS2):c.560-633G>A rs137852638
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779
NM_001178010.2(CDC45):c.1756C>T (p.Arg586Trp) rs778665661
NM_001178010.2(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_001178010.2(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_001178010.2(CDC45):c.469C>T (p.Arg157Cys) rs540217942
NM_001178010.2(CDC45):c.773A>G (p.Asp258Gly) rs754080445
NM_001178010.2(CDC45):c.989C>T (p.Ala330Val) rs146559223
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) rs1555785715
NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) rs1555786156
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321969.1(ATAD1):c.-286G>C rs1554884979
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)
NM_001447.2(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316
NM_001447.2(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261
NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) rs267607262
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) rs267607260
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_002576.4(PAK1):c.1286A>G (p.Tyr429Cys) rs1565583382
NM_002576.4(PAK1):c.392A>G (p.Tyr131Cys) rs1565638316
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003301.6(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.6(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) rs1280845604
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) rs1558211070
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) rs1566863801
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) rs1566843321
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_004321.7(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423
NM_004895.4(NLRP3):c.61G>C (p.Asp21His) rs200154873
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006502.2(POLH):c.1783A>G (p.Met595Val) rs9333555
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006852.4(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.4(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554
NM_014049.4(ACAD9):c.976G>A rs115532916
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg) rs1596711175
NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) rs1567198751
NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln) rs1596780112
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln) rs1163583945
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015231.2(NUP160):c.2407G>A (p.Glu803Lys) rs775637217
NM_015231.2(NUP160):c.2728C>T (p.Arg910Ter) rs766361033
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) rs1237876014
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) rs1562491501
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017589.4(BTG4):c.166G>A (p.Ala56Thr)
NM_017589.4(BTG4):c.73C>T (p.Gln25Ter)
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454
NM_017951.4(SMPD4):c.1337C>T (p.Pro446Leu) rs747433356
NM_017951.4(SMPD4):c.199C>T (p.Gln67Ter) rs1573728266
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018371.4(CSGALNACT1):c.1151C>G (p.Pro384Arg)
NM_018371.4(CSGALNACT1):c.1294G>T (p.Asp432Tyr)
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018965.3(TREM2):c.132G>A (p.Trp44Ter) rs104894001
NM_018965.3(TREM2):c.233G>A (p.Trp78Ter) rs104893998
NM_018965.3(TREM2):c.377T>G (p.Val126Gly) rs121908402
NM_018965.3(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.3(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445
NM_021070.4(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_024650.3(C11orf80):c.1501T>C (p.Ser501Pro) rs1449401018
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) rs1568094661
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) rs776245016
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
NM_052873.3(IFT43):c.100G>A (p.Glu34Lys) rs140366557
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) rs1555369050
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr)
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153486.3(LDHD):c.1122G>T (p.Trp374Cys) rs1567502487
NM_153486.3(LDHD):c.1388C>T (p.Thr463Met) rs764877688
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.