ClinVar Miner

List of variants in gene ERCC6 reported as likely benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000124.4(ERCC6):c.*1112G>A rs186262133
NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1314G>A rs542053472
NM_000124.4(ERCC6):c.*1327G>A rs117289374
NM_000124.4(ERCC6):c.*1780T>C rs188228522
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*1981dup rs557832376
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2155T>C rs114183603
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.*900C>T rs189979670
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1992+7C>T rs373710355
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.4(ERCC6):c.2829+11A>T rs777251839
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523

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