ClinVar Miner

Variants from GeneReviews with conflicting interpretations

Location: United States  Primary collection method: literature only
Minimum review status of the submission from GeneReviews: Collection method of the submission from GeneReviews:
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
2617 3318 223 79 7 4 54 314

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
GeneReviews pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 214 73 38 13 10 1 0
likely pathogenic 1 0 0 0 0 0 0
uncertain significance 4 0 0 1 4 0 0
benign 1 1 2 5 9 0 1
association 0 0 0 1 1 0 0
other 1 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 100
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 1747 153 0 0 2 6 161
Labcorp Genetics (formerly Invitae), Labcorp 0 1059 67 10 3 1 28 109
Baylor Genetics 0 584 38 21 0 0 2 61
Illumina Laboratory Services, Illumina 0 448 9 5 4 1 13 32
Natera, Inc. 0 440 29 0 0 0 2 31
Counsyl 0 225 5 18 0 0 7 30
Fulgent Genetics, Fulgent Genetics 0 359 14 5 0 0 5 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 505 18 5 0 0 0 23
Revvity Omics, Revvity 0 237 11 7 0 0 1 19
Mendelics 0 224 4 1 0 0 11 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 245 9 3 0 0 2 14
Myriad Genetics, Inc. 0 269 11 1 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 123 3 5 0 0 2 10
3billion 0 213 5 2 0 0 1 8
Neuberg Centre For Genomic Medicine, NCGM 0 133 8 0 0 0 0 8
MGZ Medical Genetics Center 0 105 4 2 0 0 1 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 102 6 1 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 71 3 2 0 0 1 6
Institute of Human Genetics, University of Leipzig Medical Center 0 187 5 1 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 67 5 1 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 67 1 1 0 1 2 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 116 3 1 0 0 1 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 40 1 4 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 49 1 0 0 0 4 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 97 4 1 0 0 0 5
Genome-Nilou Lab 0 263 3 1 0 0 1 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 40 3 1 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 28 1 0 0 0 3 4
Genetic Services Laboratory, University of Chicago 0 99 1 1 0 0 1 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 57 1 1 0 0 1 3
CSER _CC_NCGL, University of Washington 0 5 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 53 3 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 5 3 0 0 0 0 3
New York Genome Center 0 35 2 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 132 2 0 0 0 0 2
Ambry Genetics 0 34 0 1 0 1 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 17 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 32 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 48 2 0 0 0 0 2
Pars Genome Lab 0 1 0 0 0 0 2 2
Lifecell International Pvt. Ltd 0 32 2 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 0 18 2 0 0 0 0 2
DASA 0 45 2 0 0 0 0 2
Solve-RD Consortium 0 29 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 16 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 55 1 0 0 0 0 1
GeneDx 0 21 0 1 0 0 0 1
King Laboratory, University of Washington 0 3 1 0 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 18 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 31 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 17 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 73 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 13 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 19 1 0 0 0 0 1
American College of Medical Genetics and Genomics (ACMG) 0 24 0 0 0 1 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 13 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 1 0 0 0 1
Blueprint Genetics 0 9 1 0 0 0 0 1
ITMI 0 1 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 41 1 0 0 0 0 1
Dept of Medicine and Surgery, University of Milano-Bicocca 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 5 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 2 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 7 0 1 0 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
GenePathDx, GenePath diagnostics 0 3 0 0 0 0 1 1
Robarts Research Institute, Western University 0 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 14 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 23 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 52 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 65 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 10 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 10 0 1 0 0 0 1
Cirak Lab, University Hospital Cologne 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 6 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 34 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 11 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 28 1 0 0 0 0 1
Breda Genetics srl 0 5 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 6 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 7 1 0 0 0 0 1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 0 3 1 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 6 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 20 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 21 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 32 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 3 1 0 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 2 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 6 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 70 1 0 0 0 0 1
Arcensus 0 3 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 23 0 0 0 0 1 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 5 1 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 1 0 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 314
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_198578.3(LRRK2):c.149A>G (p.His50Arg) rs2256408 0.03048
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_198578.4(LRRK2):c.225G>A (p.Ala75=) rs75054132 0.00146
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282 0.00024
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) rs368420430 0.00022
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser) rs77018758 0.00009
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493 0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met) rs200002022 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000824.5(GLRB):c.610+5G>A rs281864922 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_005259.3(MSTN):c.373+5G>A rs397515373 0.00001
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137 0.00001
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NC_000003.12:g.169764651G>C rs199422286
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.3600934_3658165del
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-ND1):m.4216T>C rs1599988
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) rs121918415
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) rs121918417
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) rs121918409
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) rs121918413
NM_000171.4(GLRA1):c.862G>A (p.Val288Met) rs121918416
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) rs121918411
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del) rs397515376
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala) rs104894048
NM_000193.4(SHH):c.263A>T (p.Asp88Val) rs104894050
NM_000193.4(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.4(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000193.4(SHH):c.345C>A (p.Asn115Lys) rs267607047
NM_000193.4(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.4(SHH):c.349T>G (p.Trp117Gly) rs104894040
NM_000193.4(SHH):c.671T>A (p.Val224Glu) rs104894042
NM_000193.4(SHH):c.766G>T (p.Glu256Ter) rs104894051
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del) rs397515375
NM_000193.4(SHH):c.850G>T (p.Glu284Ter) rs104894046
NM_000193.4(SHH):c.91G>A (p.Gly31Arg) rs28936675
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000602.4(SERPINE1):c.-820_-817G(4_5) rs1799762
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) rs587778808
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) rs587778810
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp) rs121909749
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) rs71647806
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs) rs281864924
NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser) rs121908497
NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg) rs281864926
NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter) rs121908495
NM_004211.5(SLC6A5):c.323del (p.Pro108fs) rs281864923
NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val) rs121908496
NM_004409.4(DMPK):c.*224CTG[(35_49)]
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_005413.4(SIX3):c.676C>G (p.Leu226Val) rs121917878
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084
NM_015915.5(ATL1):c.1519dup (p.Ile507fs) rs863223314
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp) rs119476051
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) rs386134176
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter) rs312262744
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser) rs387907021
NM_032383.5(HPS3):c.0_217+692del
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr) rs80358250
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) rs587778822
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) rs587778821
NM_181714.4(LCA5):c.0_-298+211del
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.3(TERC):n.107_108delGCinsAG rs199476393
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.408C>G rs199422284
NR_001566.3(TERC):n.52_55delCTAA rs199422263
Single allele
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
m.961T>G rs3888511

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