ClinVar Miner

List of variants in gene ERCC6 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.3095_3107del (p.Pro1032fs) rs755974092 0.00004
NM_000124.4(ERCC6):c.1607T>G (p.Leu536Trp) rs774175886 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1551G>A (p.Trp517Ter) rs1554790012 0.00001
NM_000124.4(ERCC6):c.1657A>T (p.Lys553Ter) rs1851339301 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.2170-1G>A rs1310452605 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3661C>T (p.Arg1221Ter) rs529174213 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NC_000010.10:g.(?_50666861)_(50667300_?)del
NC_000010.10:g.(?_50669378)_(50669622_?)del
NC_000010.10:g.(?_50701143)_(50714078_?)del
NC_000010.10:g.(?_50708564)_(50714078_?)del
NC_000010.11:g.49459235del rs2132524052
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1033A>T (p.Lys345Ter)
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1066G>T (p.Glu356Ter) rs1837257225
NM_000124.4(ERCC6):c.1100_1101del (p.Asp366_Ser367insTer)
NM_000124.4(ERCC6):c.1116_1125del (p.Glu373fs)
NM_000124.4(ERCC6):c.111del (p.Asp38fs) rs1837504550
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1412_1413del (p.Leu471fs) rs933980617
NM_000124.4(ERCC6):c.1431_1432del (p.Lys478fs) rs746616255
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1442dup (p.Leu482fs)
NM_000124.4(ERCC6):c.145del (p.Ser49fs)
NM_000124.4(ERCC6):c.1499del (p.Pro500fs) rs2132582100
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1534C>T (p.Gln512Ter)
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1685+6T>G
NM_000124.4(ERCC6):c.1690G>T (p.Glu564Ter) rs2132565119
NM_000124.4(ERCC6):c.1717_1720del (p.Cys573fs)
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.1750_1751insT (p.Glu584fs) rs2132565021
NM_000124.4(ERCC6):c.1794_1810del (p.Glu599fs)
NM_000124.4(ERCC6):c.184_185del (p.Ala62fs)
NM_000124.4(ERCC6):c.1862del (p.Ile620_Leu621insTer)
NM_000124.4(ERCC6):c.1868_1869dup (p.Ser624fs) rs1307714476
NM_000124.4(ERCC6):c.1894C>T (p.Gln632Ter)
NM_000124.4(ERCC6):c.1898del (p.Asp633fs)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1953dup (p.Arg652fs)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1992+3A>G rs994372113
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2066_2067del (p.Leu688_Phe689insTer) rs2132551765
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.2144del (p.Gly715fs)
NM_000124.4(ERCC6):c.2224_2233del (p.Leu742fs)
NM_000124.4(ERCC6):c.2247del (p.Asp749fs) rs2132546827
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2286+1G>T rs1362935450
NM_000124.4(ERCC6):c.2349dup (p.Glu784fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.255del (p.Ser86fs)
NM_000124.4(ERCC6):c.2583_2584del (p.Gln863fs)
NM_000124.4(ERCC6):c.2591C>G (p.Ser864Ter)
NM_000124.4(ERCC6):c.2614G>T (p.Glu872Ter)
NM_000124.4(ERCC6):c.2650_2665dup (p.Thr889fs) rs779850702
NM_000124.4(ERCC6):c.2707G>T (p.Glu903Ter)
NM_000124.4(ERCC6):c.2709+1G>T rs1850818899
NM_000124.4(ERCC6):c.2950_2953del (p.Asn984fs) rs747651923
NM_000124.4(ERCC6):c.2951del (p.Asn984fs) rs2132538134
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.2987dup (p.Lys997fs)
NM_000124.4(ERCC6):c.3020dup (p.Thr1008fs)
NM_000124.4(ERCC6):c.3040C>T (p.Gln1014Ter) rs2132537982
NM_000124.4(ERCC6):c.304C>T (p.Gln102Ter) rs1339834464
NM_000124.4(ERCC6):c.3052del (p.Thr1018fs) rs2132537968
NM_000124.4(ERCC6):c.3059del (p.Ala1020fs)
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3071-2A>G
NM_000124.4(ERCC6):c.3080C>G (p.Ser1027Ter)
NM_000124.4(ERCC6):c.3112del (p.Arg1038fs) rs2132537738
NM_000124.4(ERCC6):c.320_321del (p.Gln107fs)
NM_000124.4(ERCC6):c.3230del (p.Gly1077fs) rs1850762108
NM_000124.4(ERCC6):c.3231dup (p.Ala1078fs)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.331C>T (p.Gln111Ter)
NM_000124.4(ERCC6):c.3325G>T (p.Glu1109Ter)
NM_000124.4(ERCC6):c.3335del (p.Asn1112fs) rs2132537371
NM_000124.4(ERCC6):c.3371del (p.Ser1124fs) rs2132537341
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3417_3418insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTAGGAACAGGCAAAACTTCT (p.Ser1139_Met1140insPhePhePhePhePhePheXaaXaaXaaXaaMetAlaSerGlnPheSerGlnHisHisLeuLeuAsnArgGluSerPheProHisCysLeuPhePheSerGlyLeuGlyThrGlyLysThrSer)
NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter) rs1250248245
NM_000124.4(ERCC6):c.3460_3463del (p.Ser1154fs)
NM_000124.4(ERCC6):c.3460dup (p.Ser1154fs)
NM_000124.4(ERCC6):c.3464dup (p.Tyr1155Ter) rs2132537171
NM_000124.4(ERCC6):c.3508G>T (p.Glu1170Ter)
NM_000124.4(ERCC6):c.3520del (p.Met1174fs) rs1470966288
NM_000124.4(ERCC6):c.3522_3523delinsTT (p.Met1174_Glu1175delinsIleTer) rs2132537076
NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter) rs1554794590
NM_000124.4(ERCC6):c.3564_3565del (p.His1188fs) rs2132536979
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3626_3627del (p.Asn1208_Ser1209insTer)
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs) rs758341467
NM_000124.4(ERCC6):c.3776C>G (p.Ser1259Ter)
NM_000124.4(ERCC6):c.37_49del (p.Gln13fs) rs1590492448
NM_000124.4(ERCC6):c.3820G>T (p.Gly1274Ter)
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3880_3904del (p.Leu1294fs)
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3957dup (p.Ile1320fs)
NM_000124.4(ERCC6):c.3983dup (p.Ser1329fs) rs760027420
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4017del (p.Ser1340fs)
NM_000124.4(ERCC6):c.4034C>G (p.Ser1345Ter)
NM_000124.4(ERCC6):c.4037C>G (p.Ser1346Ter) rs2132525337
NM_000124.4(ERCC6):c.4060C>T (p.Gln1354Ter) rs1223670390
NM_000124.4(ERCC6):c.4063-2A>C rs1554873833
NM_000124.4(ERCC6):c.4073_4079dup (p.Lys1360fs)
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
NM_000124.4(ERCC6):c.439dup (p.Leu147fs)
NM_000124.4(ERCC6):c.43C>T (p.Gln15Ter)
NM_000124.4(ERCC6):c.445C>T (p.Gln149Ter) rs2132635739
NM_000124.4(ERCC6):c.50_51del (p.Cys17fs)
NM_000124.4(ERCC6):c.537dup (p.Asn180Ter) rs2132635486
NM_000124.4(ERCC6):c.544-1G>A rs901360414
NM_000124.4(ERCC6):c.550C>T (p.Gln184Ter) rs1272962297
NM_000124.4(ERCC6):c.55C>T (p.Gln19Ter) rs1436103479
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.5del (p.Pro2fs)
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.660del (p.Pro221fs)
NM_000124.4(ERCC6):c.709G>T (p.Glu237Ter)
NM_000124.4(ERCC6):c.777_787del (p.Lys259fs)
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.78_81del (p.Asn26fs)
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000124.4(ERCC6):c.814G>T (p.Glu272Ter)
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.88del (p.Ala30fs) rs1309255175
NM_000124.4(ERCC6):c.94A>T (p.Lys32Ter)
NM_000124.4(ERCC6):c.958del (p.Val320fs)

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