ClinVar Miner

List of variants in gene ERCC2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1238-1155C>G rs41275762 0.00529
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) rs34021577 0.00234
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_000400.4(ERCC2):c.1377+8C>T rs370862494 0.00044
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) rs116544270 0.00027
NM_000400.4(ERCC2):c.1278G>A (p.Pro426=) rs148469762 0.00023
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000400.4(ERCC2):c.1378-8C>T rs558250151 0.00019
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) rs368708674 0.00012
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.297C>T (p.Gly99=) rs200953364 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000400.4(ERCC2):c.373C>T (p.Arg125Cys) rs372425466 0.00007
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.2040C>T (p.Ala680=) rs374379149 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) rs562132292 0.00004
NM_000400.4(ERCC2):c.2056C>T (p.Arg686Cys) rs144277365 0.00004
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007 0.00004
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=) rs372468267 0.00003
NM_000400.4(ERCC2):c.1875C>T (p.Tyr625=) rs146538967 0.00003
NM_000400.4(ERCC2):c.57C>T (p.Pro19=) rs369106754 0.00003
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.1510A>G (p.Ile504Val) rs753317794 0.00001
NM_000400.4(ERCC2):c.2142C>G (p.Val714=) rs546902024 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.820A>T (p.Lys274Ter) rs779850024 0.00001
NM_000400.4(ERCC2):c.936C>T (p.Asp312=) rs747301897 0.00001
NM_000400.4(ERCC2):c.1254C>T (p.Ile418=)
NM_000400.4(ERCC2):c.1452G>A (p.Thr484=)
NM_000400.4(ERCC2):c.1634T>C (p.Met545Thr) rs1971954711
NM_000400.4(ERCC2):c.1666-8_1740dup
NM_000400.4(ERCC2):c.1698G>A (p.Leu566=)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1707del (p.Ile569fs) rs767672172
NM_000400.4(ERCC2):c.1812G>T (p.Val604=)
NM_000400.4(ERCC2):c.18C>T (p.Asp6=) rs1599752822
NM_000400.4(ERCC2):c.1927C>T (p.Gln643Ter) rs1971848694
NM_000400.4(ERCC2):c.192G>A (p.Pro64=)
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
NM_000400.4(ERCC2):c.2190+98G>A
NM_000400.4(ERCC2):c.2191-197G>T
NM_000400.4(ERCC2):c.2191-230C>T
NM_000400.4(ERCC2):c.494_495insT (p.Arg166fs)
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.678C>T (p.Ala226=) rs755405968
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.4(ERCC2):c.894C>T (p.Ala298=)

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