ClinVar Miner

List of variants in gene ERCC2 studied for Xeroderma pigmentosum

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.417C>G (p.Ala139=) rs145239390 0.00287
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
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.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=) rs142702501 0.00102
NM_000400.4(ERCC2):c.633C>T (p.Tyr211=) rs112910027 0.00073
NM_000400.4(ERCC2):c.138C>T (p.Thr46=) rs141391238 0.00068
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
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.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=) rs148319713 0.00025
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.1119-5G>A rs369538318 0.00021
NM_000400.4(ERCC2):c.1378-8C>T rs558250151 0.00019
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His) rs146632315 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000400.4(ERCC2):c.988C>T (p.Leu330=) rs146022050 0.00016
NM_000400.4(ERCC2):c.1518C>A (p.Ser506=) rs544159896 0.00015
NM_000400.4(ERCC2):c.1665+4C>T rs148416328 0.00015
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) rs368708674 0.00012
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) rs202156896 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
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.1903-11C>T rs370777762 0.00009
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000400.4(ERCC2):c.873G>A (p.Gly291=) rs552090174 0.00008
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.2128G>A (p.Val710Met) rs141808167 0.00005
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 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_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=) rs372468267 0.00003
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) rs372960848 0.00003
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.1479+3G>A rs929447513 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp) rs145947678 0.00002
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys) rs974354644 0.00001
NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser) rs41559922 0.00001
NM_000400.4(ERCC2):c.1419C>A (p.Phe473Leu) rs1359215642 0.00001
NM_000400.4(ERCC2):c.1666-4C>T rs761821592 0.00001
NM_000400.4(ERCC2):c.1832-7C>T rs1410724947 0.00001
NM_000400.4(ERCC2):c.184-6C>T rs763639137 0.00001
NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu) rs1027684347 0.00001
NM_000400.4(ERCC2):c.2241G>C (p.Glu747Asp) rs774480587 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_000400.4(ERCC2):c.978C>T (p.Ala326=) rs746258199 0.00001
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
NM_000400.4(ERCC2):c.1237+5G>C rs761017664
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.183+4A>G rs1972522411
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn) rs2123223978
NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu) rs1260724831
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp) rs760337216
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]

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