ClinVar Miner

Variants from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center with conflicting interpretations

Location: South Korea  Primary collection method: reference population
Minimum review status of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
126 60 0 61 83 2 60 180

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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center pathogenic likely pathogenic uncertain significance likely benign benign affects association
pathogenic 0 5 3 1 0 0 1
likely pathogenic 51 0 20 7 8 0 0
uncertain significance 33 14 0 52 58 1 0
likely benign 0 0 2 0 4 0 0
benign 0 0 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 88
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 9 0 20 32 0 17 69
Illumina Laboratory Services, Illumina 0 27 0 5 36 0 11 52
Mendelics 0 13 0 5 24 0 10 39
OMIM 0 13 0 18 0 1 17 36
Natera, Inc. 0 13 0 14 13 0 7 34
Baylor Genetics 0 9 0 16 0 0 9 25
Fulgent Genetics, Fulgent Genetics 0 18 0 15 0 0 9 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 0 15 1 0 8 24
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 0 6 3 0 10 19
3billion 0 15 0 10 0 0 6 16
Counsyl 0 12 0 2 5 0 8 15
Genome-Nilou Lab 0 13 0 3 6 0 3 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 8 0 1 10
Myriad Genetics, Inc. 0 2 0 3 4 0 3 10
Juno Genomics, Hangzhou Juno Genomics, Inc 0 13 0 4 0 0 5 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 3 0 0 5 8
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 4 0 1 7
Revvity Omics, Revvity 0 7 0 3 0 0 3 6
Color Diagnostics, LLC DBA Color Health 0 1 0 0 3 0 2 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 2 0 2 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 2 1 0 1 4
All of Us Research Program, National Institutes of Health 0 4 0 0 2 0 2 4
GeneDx 0 3 0 1 3 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 4 4
Variantyx, Inc. 0 0 0 2 0 0 2 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 1 2 0 0 3
CSER _CC_NCGL, University of Washington 0 2 0 0 2 0 1 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 1 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 2 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 2 0 0 1 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 2 0 0 3
Reproductive Health Research and Development, BGI Genomics 0 2 0 1 0 0 2 3
Sharing Clinical Reports Project (SCRP) 0 1 0 0 3 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 1 0 1 3
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 0 0 0 0 1 0 1 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 1 0 0 1 2
Dasa 0 0 0 1 0 0 1 2
GeneReviews 0 17 0 1 0 0 1 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 0 0 0 2 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 2 0 0 0 2
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 0 0 2 0 0 0 2
Ambry Genetics 0 2 0 0 1 0 0 1
Athena Diagnostics 0 0 0 0 1 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 0 0 0 1 1
CFTR2 0 0 0 0 1 0 0 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 0 0 0 0 1 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 0 1 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 2 0 0 0 0 1 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 0 1 1
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 0 0 0 0 0 0 1 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 0 0 0 1 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 1 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 1 0 0 0 1
Pars Genome Lab 0 1 0 0 1 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 180
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000150.4(FUT6):c.739G>A (p.Glu247Lys) rs17855739 0.11802
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769 0.00567
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00310
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00302
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00273
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00166
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00157
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00153
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00121
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00107
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00097
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly) rs8179206 0.00096
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00094
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_052872.4(IL17F):c.254+1G>T rs117796773 0.00070
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00061
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) rs1800028 0.00057
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00057
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00056
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00056
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00054
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00050
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00049
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00040
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00039
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00039
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00031
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00027
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00027
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00025
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00025
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) rs139329616 0.00025
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00023
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00021
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00017
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00017
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) rs144935285 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00013
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408 0.00011
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00010
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00009
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00009
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00009
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00008
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00005
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00005
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00005
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00005
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00004
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00004
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00004
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000587.4(C7):c.281-1G>T rs531103546 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001113378.2(FANCI):c.158-2A>G rs762128147 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) rs776813259 0.00001
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570 0.00001
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) rs397514630 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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