ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val) rs774078839 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NC_000011.9:g.(?_22644078)_(22647388_?)del
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
NM_000082.4(ERCC8):c.275+1G>A
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) rs779078202
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs) rs1882641004
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) rs1695999145
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)

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