ClinVar Miner

List of variants in gene ERCC2 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 496
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
NM_000400.4(ERCC2):c.1119-5G>A rs369538318 0.00021
NM_000400.4(ERCC2):c.2114A>G (p.Asn705Ser) rs140296400 0.00017
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys) rs201392911 0.00014
NM_000400.4(ERCC2):c.1939C>T (p.Arg647Cys) rs370377312 0.00006
NM_000400.4(ERCC2):c.2015C>T (p.Thr672Met) rs200438494 0.00006
NM_000400.4(ERCC2):c.1187C>T (p.Pro396Leu) rs778436682 0.00004
NM_000400.4(ERCC2):c.1280C>T (p.Thr427Ile) rs563069969 0.00004
NM_000400.4(ERCC2):c.497G>A (p.Arg166His) rs747109257 0.00004
NM_000400.4(ERCC2):c.1090C>T (p.Arg364Cys) rs367741538 0.00003
NM_000400.4(ERCC2):c.1257G>T (p.Glu419Asp) rs771820925 0.00003
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) rs764868582 0.00002
NM_000400.4(ERCC2):c.2111C>T (p.Ala704Val) rs756273306 0.00002
NM_000400.4(ERCC2):c.290A>T (p.Gln97Leu) rs762743220 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys) rs974354644 0.00001
NM_000400.4(ERCC2):c.1177G>C (p.Asp393His) rs1486595851 0.00001
NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val) rs754585006 0.00001
NM_000400.4(ERCC2):c.1419C>A (p.Phe473Leu) rs1359215642 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.1747A>C (p.Lys583Gln) rs1971888563 0.00001
NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu) rs1027684347 0.00001
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) rs763885481 0.00001
NM_000400.4(ERCC2):c.2241G>C (p.Glu747Asp) rs774480587 0.00001
NM_000400.4(ERCC2):c.260T>C (p.Leu87Pro) rs779462120 0.00001
NM_000400.4(ERCC2):c.402C>G (p.Cys134Trp) rs767543274 0.00001
NM_000400.4(ERCC2):c.431C>T (p.Ala144Val) rs776313922 0.00001
NM_000400.4(ERCC2):c.676G>A (p.Ala226Thr) rs753696173 0.00001
NM_000400.4(ERCC2):c.85A>G (p.Lys29Glu) rs1215067695 0.00001
NM_000400.4(ERCC2):c.951G>C (p.Glu317Asp) rs1383411854 0.00001
NM_000400.4(ERCC2):c.952G>A (p.Ala318Thr) rs749260944 0.00001
NM_000400.4(ERCC2):c.1004G>A (p.Arg335Gln)
NM_000400.4(ERCC2):c.1018G>A (p.Val340Met)
NM_000400.4(ERCC2):c.1027C>G (p.Arg343Gly)
NM_000400.4(ERCC2):c.1027C>T (p.Arg343Trp) rs1243536822
NM_000400.4(ERCC2):c.1030C>G (p.Leu344Val)
NM_000400.4(ERCC2):c.1033C>G (p.Arg345Gly)
NM_000400.4(ERCC2):c.1033C>T (p.Arg345Cys)
NM_000400.4(ERCC2):c.1034G>A (p.Arg345His)
NM_000400.4(ERCC2):c.1034G>T (p.Arg345Leu)
NM_000400.4(ERCC2):c.1040A>G (p.Gln347Arg)
NM_000400.4(ERCC2):c.1041G>C (p.Gln347His)
NM_000400.4(ERCC2):c.1066G>A (p.Ala356Thr)
NM_000400.4(ERCC2):c.1066G>C (p.Ala356Pro)
NM_000400.4(ERCC2):c.106G>A (p.Gly36Ser)
NM_000400.4(ERCC2):c.1078G>A (p.Gly360Ser)
NM_000400.4(ERCC2):c.1087C>G (p.Gln363Glu)
NM_000400.4(ERCC2):c.1088A>G (p.Gln363Arg)
NM_000400.4(ERCC2):c.1090C>G (p.Arg364Gly)
NM_000400.4(ERCC2):c.1091G>A (p.Arg364His)
NM_000400.4(ERCC2):c.1093G>A (p.Val365Met)
NM_000400.4(ERCC2):c.1094T>A (p.Val365Glu)
NM_000400.4(ERCC2):c.1106G>A (p.Arg369His) rs951527717
NM_000400.4(ERCC2):c.1110G>T (p.Lys370Asn)
NM_000400.4(ERCC2):c.1117A>G (p.Arg373Gly)
NM_000400.4(ERCC2):c.1130A>T (p.Glu377Val)
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)
NM_000400.4(ERCC2):c.1136T>G (p.Leu379Arg)
NM_000400.4(ERCC2):c.1138C>T (p.Arg380Trp)
NM_000400.4(ERCC2):c.1139G>A (p.Arg380Gln) rs752646404
NM_000400.4(ERCC2):c.1139G>C (p.Arg380Pro)
NM_000400.4(ERCC2):c.1142C>T (p.Ser381Phe)
NM_000400.4(ERCC2):c.1148T>A (p.Leu383Gln)
NM_000400.4(ERCC2):c.1156C>A (p.Leu386Met)
NM_000400.4(ERCC2):c.115G>A (p.Val39Ile)
NM_000400.4(ERCC2):c.1160A>C (p.Glu387Ala)
NM_000400.4(ERCC2):c.1161G>C (p.Glu387Asp)
NM_000400.4(ERCC2):c.1162A>T (p.Ile388Phe)
NM_000400.4(ERCC2):c.1163T>A (p.Ile388Asn)
NM_000400.4(ERCC2):c.1172T>A (p.Leu391His)
NM_000400.4(ERCC2):c.1177G>T (p.Asp393Tyr)
NM_000400.4(ERCC2):c.1182C>G (p.Phe394Leu) rs374391544
NM_000400.4(ERCC2):c.1184C>G (p.Ser395Cys)
NM_000400.4(ERCC2):c.1187C>G (p.Pro396Arg)
NM_000400.4(ERCC2):c.1196T>C (p.Leu399Pro)
NM_000400.4(ERCC2):c.1196T>G (p.Leu399Arg)
NM_000400.4(ERCC2):c.119T>C (p.Leu40Pro)
NM_000400.4(ERCC2):c.1202C>G (p.Ala401Gly)
NM_000400.4(ERCC2):c.1204A>G (p.Asn402Asp)
NM_000400.4(ERCC2):c.1208T>A (p.Phe403Tyr)
NM_000400.4(ERCC2):c.1208T>C (p.Phe403Ser)
NM_000400.4(ERCC2):c.1222A>G (p.Ser408Gly)
NM_000400.4(ERCC2):c.1225A>C (p.Thr409Pro)
NM_000400.4(ERCC2):c.1225A>G (p.Thr409Ala)
NM_000400.4(ERCC2):c.1226C>T (p.Thr409Ile)
NM_000400.4(ERCC2):c.1228T>C (p.Tyr410His)
NM_000400.4(ERCC2):c.1231G>A (p.Ala411Thr)
NM_000400.4(ERCC2):c.1234A>G (p.Lys412Glu)
NM_000400.4(ERCC2):c.1235A>G (p.Lys412Arg)
NM_000400.4(ERCC2):c.1241T>C (p.Phe414Ser)
NM_000400.4(ERCC2):c.1244C>A (p.Thr415Asn)
NM_000400.4(ERCC2):c.1247T>C (p.Ile416Thr)
NM_000400.4(ERCC2):c.1256A>G (p.Glu419Gly)
NM_000400.4(ERCC2):c.1258C>T (p.Pro420Ser)
NM_000400.4(ERCC2):c.1268A>G (p.Asp423Gly)
NM_000400.4(ERCC2):c.1271G>A (p.Arg424Lys)
NM_000400.4(ERCC2):c.1274C>T (p.Thr425Ile)
NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser) rs577723968
NM_000400.4(ERCC2):c.1277C>G (p.Pro426Arg)
NM_000400.4(ERCC2):c.1282A>G (p.Ile428Val)
NM_000400.4(ERCC2):c.1289A>G (p.Asn430Ser)
NM_000400.4(ERCC2):c.1291C>A (p.Pro431Thr)
NM_000400.4(ERCC2):c.1291C>G (p.Pro431Ala)
NM_000400.4(ERCC2):c.1292C>G (p.Pro431Arg)
NM_000400.4(ERCC2):c.1292C>T (p.Pro431Leu)
NM_000400.4(ERCC2):c.1295T>A (p.Ile432Asn)
NM_000400.4(ERCC2):c.1300C>T (p.His434Tyr)
NM_000400.4(ERCC2):c.1305C>G (p.Phe435Leu)
NM_000400.4(ERCC2):c.1312A>T (p.Met438Leu)
NM_000400.4(ERCC2):c.1314G>A (p.Met438Ile)
NM_000400.4(ERCC2):c.1318G>A (p.Ala440Thr)
NM_000400.4(ERCC2):c.1330A>C (p.Ile444Leu)
NM_000400.4(ERCC2):c.1330A>T (p.Ile444Phe)
NM_000400.4(ERCC2):c.1333A>G (p.Lys445Glu)
NM_000400.4(ERCC2):c.1337C>T (p.Pro446Leu)
NM_000400.4(ERCC2):c.1340T>C (p.Val447Ala)
NM_000400.4(ERCC2):c.1340T>G (p.Val447Gly)
NM_000400.4(ERCC2):c.1345G>C (p.Glu449Gln)
NM_000400.4(ERCC2):c.1353C>G (p.Phe451Leu)
NM_000400.4(ERCC2):c.1355A>G (p.Gln452Arg)
NM_000400.4(ERCC2):c.1358C>T (p.Ser453Phe)
NM_000400.4(ERCC2):c.1360G>T (p.Val454Phe)
NM_000400.4(ERCC2):c.1370C>T (p.Thr457Ile)
NM_000400.4(ERCC2):c.1373C>T (p.Ser458Phe)
NM_000400.4(ERCC2):c.1375G>C (p.Gly459Arg)
NM_000400.4(ERCC2):c.1393G>A (p.Asp465Asn)
NM_000400.4(ERCC2):c.1393G>T (p.Asp465Tyr)
NM_000400.4(ERCC2):c.1397T>G (p.Ile466Ser)
NM_000400.4(ERCC2):c.1400A>G (p.Tyr467Cys)
NM_000400.4(ERCC2):c.1408A>G (p.Ile470Val)
NM_000400.4(ERCC2):c.1418T>C (p.Phe473Ser)
NM_000400.4(ERCC2):c.1418T>G (p.Phe473Cys)
NM_000400.4(ERCC2):c.1421A>G (p.His474Arg) rs746461660
NM_000400.4(ERCC2):c.1426G>T (p.Val476Phe)
NM_000400.4(ERCC2):c.1430C>A (p.Thr477Asn)
NM_000400.4(ERCC2):c.1430C>T (p.Thr477Ile)
NM_000400.4(ERCC2):c.1433T>C (p.Met478Thr)
NM_000400.4(ERCC2):c.1438A>G (p.Thr480Ala)
NM_000400.4(ERCC2):c.1447A>G (p.Met483Val)
NM_000400.4(ERCC2):c.1456G>A (p.Ala486Thr)
NM_000400.4(ERCC2):c.1477A>C (p.Met493Leu)
NM_000400.4(ERCC2):c.1478T>C (p.Met493Thr)
NM_000400.4(ERCC2):c.1484T>C (p.Ile495Thr)
NM_000400.4(ERCC2):c.1486G>A (p.Gly496Ser)
NM_000400.4(ERCC2):c.1487G>T (p.Gly496Val)
NM_000400.4(ERCC2):c.1499A>T (p.Asp500Val)
NM_000400.4(ERCC2):c.1500C>G (p.Asp500Glu)
NM_000400.4(ERCC2):c.1502A>C (p.Gln501Pro)
NM_000400.4(ERCC2):c.1505T>A (p.Val502Glu)
NM_000400.4(ERCC2):c.1513A>G (p.Ser505Gly)
NM_000400.4(ERCC2):c.1516T>G (p.Ser506Ala)
NM_000400.4(ERCC2):c.1520A>G (p.Lys507Arg)
NM_000400.4(ERCC2):c.1522T>C (p.Phe508Leu)
NM_000400.4(ERCC2):c.1529C>T (p.Thr510Ile)
NM_000400.4(ERCC2):c.1531C>T (p.Arg511Trp) rs1971987929
NM_000400.4(ERCC2):c.1541T>C (p.Ile514Thr)
NM_000400.4(ERCC2):c.1544C>G (p.Ala515Gly)
NM_000400.4(ERCC2):c.1544C>T (p.Ala515Val)
NM_000400.4(ERCC2):c.1552C>T (p.Arg518Trp)
NM_000400.4(ERCC2):c.1559A>G (p.Tyr520Cys)
NM_000400.4(ERCC2):c.155T>C (p.Leu52Pro)
NM_000400.4(ERCC2):c.1562G>C (p.Gly521Ala)
NM_000400.4(ERCC2):c.1564A>G (p.Asn522Asp)
NM_000400.4(ERCC2):c.1565A>G (p.Asn522Ser)
NM_000400.4(ERCC2):c.1567C>G (p.Leu523Val)
NM_000400.4(ERCC2):c.1567C>T (p.Leu523Phe)
NM_000400.4(ERCC2):c.1591G>A (p.Val531Ile)
NM_000400.4(ERCC2):c.1591G>T (p.Val531Phe)
NM_000400.4(ERCC2):c.1606G>C (p.Val536Leu)
NM_000400.4(ERCC2):c.160G>A (p.Ala54Thr)
NM_000400.4(ERCC2):c.1610C>A (p.Ala537Asp)
NM_000400.4(ERCC2):c.1610C>T (p.Ala537Val)
NM_000400.4(ERCC2):c.1612T>G (p.Phe538Val)
NM_000400.4(ERCC2):c.1613T>C (p.Phe538Ser)
NM_000400.4(ERCC2):c.1622G>T (p.Ser541Ile)
NM_000400.4(ERCC2):c.1629G>C (p.Gln543His)
NM_000400.4(ERCC2):c.1633A>G (p.Met545Val)
NM_000400.4(ERCC2):c.1639A>C (p.Ser547Arg)
NM_000400.4(ERCC2):c.1639A>G (p.Ser547Gly)
NM_000400.4(ERCC2):c.163C>G (p.Leu55Val)
NM_000400.4(ERCC2):c.1640G>A (p.Ser547Asn)
NM_000400.4(ERCC2):c.1642A>G (p.Thr548Ala)
NM_000400.4(ERCC2):c.1656G>C (p.Trp552Cys)
NM_000400.4(ERCC2):c.1667G>C (p.Gly556Ala)
NM_000400.4(ERCC2):c.1670T>A (p.Ile557Asn)
NM_000400.4(ERCC2):c.1672C>T (p.Leu558Phe)
NM_000400.4(ERCC2):c.1681A>G (p.Ile561Val)
NM_000400.4(ERCC2):c.1681A>T (p.Ile561Phe)
NM_000400.4(ERCC2):c.1682T>C (p.Ile561Thr)
NM_000400.4(ERCC2):c.1682T>G (p.Ile561Ser)
NM_000400.4(ERCC2):c.1684C>A (p.Gln562Lys)
NM_000400.4(ERCC2):c.1688G>A (p.Arg563Lys)
NM_000400.4(ERCC2):c.1691A>C (p.Asn564Thr)
NM_000400.4(ERCC2):c.1694A>G (p.Lys565Arg)
NM_000400.4(ERCC2):c.1699C>T (p.Leu567Phe)
NM_000400.4(ERCC2):c.169A>T (p.Met57Leu)
NM_000400.4(ERCC2):c.1706T>G (p.Ile569Ser)
NM_000400.4(ERCC2):c.1707T>G (p.Ile569Met)
NM_000400.4(ERCC2):c.1712C>A (p.Thr571Asn)
NM_000400.4(ERCC2):c.1712C>T (p.Thr571Ile)
NM_000400.4(ERCC2):c.1718A>C (p.Asp573Ala)
NM_000400.4(ERCC2):c.1728A>T (p.Glu576Asp)
NM_000400.4(ERCC2):c.1732A>G (p.Ser578Gly)
NM_000400.4(ERCC2):c.1733G>T (p.Ser578Ile)
NM_000400.4(ERCC2):c.1738G>A (p.Ala580Thr) rs751318902
NM_000400.4(ERCC2):c.1739C>T (p.Ala580Val)
NM_000400.4(ERCC2):c.1744G>C (p.Glu582Gln)
NM_000400.4(ERCC2):c.1750T>A (p.Tyr584Asn)
NM_000400.4(ERCC2):c.1764C>G (p.Cys588Trp)
NM_000400.4(ERCC2):c.1770T>G (p.Asn590Lys)
NM_000400.4(ERCC2):c.1772G>A (p.Gly591Asp)
NM_000400.4(ERCC2):c.1783A>G (p.Ile595Val)
NM_000400.4(ERCC2):c.1784T>C (p.Ile595Thr)
NM_000400.4(ERCC2):c.1785C>G (p.Ile595Met)
NM_000400.4(ERCC2):c.1792T>G (p.Ser598Ala)
NM_000400.4(ERCC2):c.1798G>T (p.Ala600Ser)
NM_000400.4(ERCC2):c.1805G>C (p.Gly602Ala)
NM_000400.4(ERCC2):c.180G>C (p.Gln60His)
NM_000400.4(ERCC2):c.1822A>C (p.Ile608Leu)
NM_000400.4(ERCC2):c.1822A>G (p.Ile608Val)
NM_000400.4(ERCC2):c.1824C>G (p.Ile608Met)
NM_000400.4(ERCC2):c.1837C>A (p.His613Asn)
NM_000400.4(ERCC2):c.1837C>T (p.His613Tyr)
NM_000400.4(ERCC2):c.1838A>G (p.His613Arg)
NM_000400.4(ERCC2):c.1840T>A (p.Tyr614Asn)
NM_000400.4(ERCC2):c.1841A>G (p.Tyr614Cys)
NM_000400.4(ERCC2):c.1843G>C (p.Gly615Arg)
NM_000400.4(ERCC2):c.1849G>A (p.Ala617Thr)
NM_000400.4(ERCC2):c.1852G>A (p.Val618Ile) rs922327414
NM_000400.4(ERCC2):c.1853T>G (p.Val618Gly)
NM_000400.4(ERCC2):c.1855A>G (p.Ile619Val)
NM_000400.4(ERCC2):c.1860G>A (p.Met620Ile)
NM_000400.4(ERCC2):c.1860G>T (p.Met620Ile)
NM_000400.4(ERCC2):c.1862T>G (p.Phe621Cys)
NM_000400.4(ERCC2):c.1867G>C (p.Val623Leu)
NM_000400.4(ERCC2):c.1874A>G (p.Tyr625Cys)
NM_000400.4(ERCC2):c.188A>G (p.Tyr63Cys)
NM_000400.4(ERCC2):c.1919T>C (p.Leu640Pro)
NM_000400.4(ERCC2):c.191C>T (p.Pro64Leu)
NM_000400.4(ERCC2):c.1921C>G (p.Arg641Gly)
NM_000400.4(ERCC2):c.1922G>A (p.Arg641Gln)
NM_000400.4(ERCC2):c.1924G>C (p.Asp642His)
NM_000400.4(ERCC2):c.1928A>G (p.Gln643Arg)
NM_000400.4(ERCC2):c.1931T>A (p.Phe644Tyr)
NM_000400.4(ERCC2):c.1937T>C (p.Ile646Thr)
NM_000400.4(ERCC2):c.1940G>C (p.Arg647Pro)
NM_000400.4(ERCC2):c.1952T>G (p.Phe651Cys)
NM_000400.4(ERCC2):c.1954C>T (p.Leu652Phe)
NM_000400.4(ERCC2):c.1958C>G (p.Thr653Ser)
NM_000400.4(ERCC2):c.1965T>G (p.Asp655Glu)
NM_000400.4(ERCC2):c.1969A>T (p.Met657Leu)
NM_000400.4(ERCC2):c.1971G>A (p.Met657Ile)
NM_000400.4(ERCC2):c.1979C>A (p.Ala660Glu)
NM_000400.4(ERCC2):c.1979C>T (p.Ala660Val)
NM_000400.4(ERCC2):c.197A>T (p.Glu66Val)
NM_000400.4(ERCC2):c.1982C>G (p.Ala661Gly)
NM_000400.4(ERCC2):c.1987T>G (p.Cys663Gly)
NM_000400.4(ERCC2):c.1999G>A (p.Ala667Thr)
NM_000400.4(ERCC2):c.2002A>C (p.Ile668Leu)
NM_000400.4(ERCC2):c.2011A>C (p.Lys671Gln)
NM_000400.4(ERCC2):c.2013G>T (p.Lys671Asn)
NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn) rs2123223978
NM_000400.4(ERCC2):c.2019C>A (p.Asp673Glu)
NM_000400.4(ERCC2):c.2026C>G (p.Leu676Val)
NM_000400.4(ERCC2):c.2026C>T (p.Leu676Phe)
NM_000400.4(ERCC2):c.2027T>C (p.Leu676Pro)
NM_000400.4(ERCC2):c.2030T>C (p.Met677Thr)
NM_000400.4(ERCC2):c.2038G>A (p.Ala680Thr)
NM_000400.4(ERCC2):c.203C>T (p.Thr68Ile)
NM_000400.4(ERCC2):c.2041G>T (p.Asp681Tyr)
NM_000400.4(ERCC2):c.2057G>C (p.Arg686Pro)
NM_000400.4(ERCC2):c.2060G>A (p.Gly687Glu)
NM_000400.4(ERCC2):c.2063A>G (p.Asp688Gly)
NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu) rs1260724831
NM_000400.4(ERCC2):c.2069G>C (p.Arg690Pro)
NM_000400.4(ERCC2):c.2071G>A (p.Gly691Arg)
NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)
NM_000400.4(ERCC2):c.2075A>C (p.Lys692Thr)
NM_000400.4(ERCC2):c.2084G>T (p.Arg695Leu)
NM_000400.4(ERCC2):c.2086T>C (p.Trp696Arg)
NM_000400.4(ERCC2):c.2098C>A (p.His700Asn)
NM_000400.4(ERCC2):c.2105C>T (p.Thr702Ile)
NM_000400.4(ERCC2):c.2107G>A (p.Asp703Asn)
NM_000400.4(ERCC2):c.2107G>T (p.Asp703Tyr)
NM_000400.4(ERCC2):c.2110G>A (p.Ala704Thr)
NM_000400.4(ERCC2):c.2131G>A (p.Asp711Asn)
NM_000400.4(ERCC2):c.2134G>A (p.Glu712Lys)
NM_000400.4(ERCC2):c.2138G>C (p.Gly713Ala)
NM_000400.4(ERCC2):c.2144A>G (p.Gln715Arg)
NM_000400.4(ERCC2):c.2145G>T (p.Gln715His)
NM_000400.4(ERCC2):c.2146G>C (p.Val716Leu)
NM_000400.4(ERCC2):c.2146G>T (p.Val716Leu)
NM_000400.4(ERCC2):c.2152A>C (p.Lys718Gln)
NM_000400.4(ERCC2):c.2153A>T (p.Lys718Met)
NM_000400.4(ERCC2):c.2161C>G (p.Leu721Val)
NM_000400.4(ERCC2):c.2168A>G (p.Gln723Arg)
NM_000400.4(ERCC2):c.2170A>C (p.Met724Leu)
NM_000400.4(ERCC2):c.2179C>T (p.Pro727Ser)
NM_000400.4(ERCC2):c.2187C>G (p.His729Gln)
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.2189G>C (p.Arg730Pro)
NM_000400.4(ERCC2):c.2189G>T (p.Arg730Leu)
NM_000400.4(ERCC2):c.2194G>C (p.Asp732His)
NM_000400.4(ERCC2):c.2204G>A (p.Gly735Asp)
NM_000400.4(ERCC2):c.2209T>G (p.Ser737Ala)
NM_000400.4(ERCC2):c.2215C>G (p.Leu739Val)
NM_000400.4(ERCC2):c.2218A>G (p.Ser740Gly)
NM_000400.4(ERCC2):c.2224G>C (p.Glu742Gln)
NM_000400.4(ERCC2):c.2236T>A (p.Ser746Thr)
NM_000400.4(ERCC2):c.2237C>T (p.Ser746Leu)
NM_000400.4(ERCC2):c.2240A>T (p.Glu747Val)
NM_000400.4(ERCC2):c.2249T>A (p.Leu750Gln)
NM_000400.4(ERCC2):c.2249T>G (p.Leu750Arg)
NM_000400.4(ERCC2):c.2264A>G (p.Gln755Arg)
NM_000400.4(ERCC2):c.2268T>G (p.Ile756Met)
NM_000400.4(ERCC2):c.2269G>A (p.Ala757Thr)
NM_000400.4(ERCC2):c.2269G>C (p.Ala757Pro)
NM_000400.4(ERCC2):c.2270C>T (p.Ala757Val)
NM_000400.4(ERCC2):c.2277G>T (p.Gln759His)
NM_000400.4(ERCC2):c.229G>A (p.Val77Met) rs866646197
NM_000400.4(ERCC2):c.229G>C (p.Val77Leu)
NM_000400.4(ERCC2):c.232C>T (p.Pro78Ser)
NM_000400.4(ERCC2):c.251T>C (p.Ile84Thr)
NM_000400.4(ERCC2):c.259C>A (p.Leu87Ile)
NM_000400.4(ERCC2):c.265A>G (p.Lys89Glu)
NM_000400.4(ERCC2):c.276C>A (p.Asn92Lys)
NM_000400.4(ERCC2):c.276C>G (p.Asn92Lys)
NM_000400.4(ERCC2):c.279C>A (p.Phe93Leu)
NM_000400.4(ERCC2):c.280T>C (p.Tyr94His)
NM_000400.4(ERCC2):c.292G>A (p.Glu98Lys)
NM_000400.4(ERCC2):c.298G>A (p.Glu100Lys)
NM_000400.4(ERCC2):c.302A>G (p.Lys101Arg)
NM_000400.4(ERCC2):c.303G>C (p.Lys101Asn)
NM_000400.4(ERCC2):c.303G>T (p.Lys101Asn)
NM_000400.4(ERCC2):c.322G>A (p.Ala108Thr)
NM_000400.4(ERCC2):c.322G>T (p.Ala108Ser)
NM_000400.4(ERCC2):c.326T>G (p.Leu109Arg)
NM_000400.4(ERCC2):c.337A>C (p.Lys113Gln)
NM_000400.4(ERCC2):c.342C>A (p.Asn114Lys)
NM_000400.4(ERCC2):c.342C>G (p.Asn114Lys)
NM_000400.4(ERCC2):c.343T>A (p.Leu115Met)
NM_000400.4(ERCC2):c.350T>G (p.Ile117Ser)
NM_000400.4(ERCC2):c.352C>A (p.His118Asn)
NM_000400.4(ERCC2):c.352C>T (p.His118Tyr)
NM_000400.4(ERCC2):c.367C>A (p.Pro123Thr)
NM_000400.4(ERCC2):c.367C>G (p.Pro123Ala)
NM_000400.4(ERCC2):c.368C>T (p.Pro123Leu)
NM_000400.4(ERCC2):c.370C>G (p.Leu124Val)
NM_000400.4(ERCC2):c.379G>A (p.Gly127Arg)
NM_000400.4(ERCC2):c.388G>A (p.Val130Ile)
NM_000400.4(ERCC2):c.38C>A (p.Pro13Gln)
NM_000400.4(ERCC2):c.391G>C (p.Asp131His)
NM_000400.4(ERCC2):c.393T>A (p.Asp131Glu)
NM_000400.4(ERCC2):c.398A>G (p.Lys133Arg)
NM_000400.4(ERCC2):c.404A>G (p.His135Arg)
NM_000400.4(ERCC2):c.407G>A (p.Ser136Asn)
NM_000400.4(ERCC2):c.412A>G (p.Thr138Ala)
NM_000400.4(ERCC2):c.416C>T (p.Ala139Val)
NM_000400.4(ERCC2):c.419C>T (p.Ser140Phe)
NM_000400.4(ERCC2):c.422A>G (p.Tyr141Cys)
NM_000400.4(ERCC2):c.424G>A (p.Val142Met)
NM_000400.4(ERCC2):c.427C>T (p.Arg143Trp) rs765679315
NM_000400.4(ERCC2):c.430G>A (p.Ala144Thr)
NM_000400.4(ERCC2):c.439C>A (p.Gln147Lys)
NM_000400.4(ERCC2):c.443A>G (p.His148Arg)
NM_000400.4(ERCC2):c.446A>T (p.Asp149Val)
NM_000400.4(ERCC2):c.448A>G (p.Thr150Ala)
NM_000400.4(ERCC2):c.449C>T (p.Thr150Ile)
NM_000400.4(ERCC2):c.457C>T (p.Pro153Ser)
NM_000400.4(ERCC2):c.461A>G (p.His154Arg)
NM_000400.4(ERCC2):c.467G>T (p.Arg156Leu)
NM_000400.4(ERCC2):c.469T>G (p.Phe157Val)
NM_000400.4(ERCC2):c.485A>T (p.Asp162Val)
NM_000400.4(ERCC2):c.488C>G (p.Ala163Gly)
NM_000400.4(ERCC2):c.508C>T (p.Leu170Phe)
NM_000400.4(ERCC2):c.524A>G (p.Tyr175Cys)
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) rs146137795
NM_000400.4(ERCC2):c.527A>T (p.Asn176Ile)
NM_000400.4(ERCC2):c.533A>G (p.Asp178Gly)
NM_000400.4(ERCC2):c.542A>C (p.Lys181Thr)
NM_000400.4(ERCC2):c.544G>T (p.Ala182Ser)
NM_000400.4(ERCC2):c.55C>G (p.Pro19Ala)
NM_000400.4(ERCC2):c.55C>T (p.Pro19Ser)
NM_000400.4(ERCC2):c.560A>C (p.Gln187Pro)
NM_000400.4(ERCC2):c.567G>T (p.Trp189Cys)
NM_000400.4(ERCC2):c.56C>T (p.Pro19Leu)
NM_000400.4(ERCC2):c.574T>A (p.Tyr192Asn)
NM_000400.4(ERCC2):c.574T>C (p.Tyr192His)
NM_000400.4(ERCC2):c.579C>G (p.Phe193Leu)
NM_000400.4(ERCC2):c.584C>T (p.Ala195Val)
NM_000400.4(ERCC2):c.587G>C (p.Arg196Pro)
NM_000400.4(ERCC2):c.589T>C (p.Tyr197His)
NM_000400.4(ERCC2):c.58G>A (p.Glu20Lys)
NM_000400.4(ERCC2):c.593C>T (p.Ser198Leu)
NM_000400.4(ERCC2):c.623G>A (p.Ser208Asn)
NM_000400.4(ERCC2):c.634C>G (p.Leu212Val)
NM_000400.4(ERCC2):c.643C>T (p.Pro215Ser)
NM_000400.4(ERCC2):c.644C>A (p.Pro215His)
NM_000400.4(ERCC2):c.653C>T (p.Ala218Val)
NM_000400.4(ERCC2):c.657C>G (p.Asp219Glu) rs1050709482
NM_000400.4(ERCC2):c.665C>G (p.Ser222Cys)
NM_000400.4(ERCC2):c.665C>T (p.Ser222Phe)
NM_000400.4(ERCC2):c.668A>C (p.Lys223Thr) rs1972352059
NM_000400.4(ERCC2):c.671A>G (p.Glu224Gly)
NM_000400.4(ERCC2):c.673C>G (p.Leu225Val)
NM_000400.4(ERCC2):c.680G>T (p.Arg227Leu)
NM_000400.4(ERCC2):c.685G>A (p.Ala229Thr)
NM_000400.4(ERCC2):c.686C>T (p.Ala229Val)
NM_000400.4(ERCC2):c.688G>C (p.Val230Leu)
NM_000400.4(ERCC2):c.688G>T (p.Val230Phe)
NM_000400.4(ERCC2):c.694G>A (p.Val232Ile)
NM_000400.4(ERCC2):c.6G>T (p.Lys2Asn)
NM_000400.4(ERCC2):c.700G>C (p.Asp234His)
NM_000400.4(ERCC2):c.715A>C (p.Ile239Leu)
NM_000400.4(ERCC2):c.719A>G (p.Asp240Gly)
NM_000400.4(ERCC2):c.720C>A (p.Asp240Glu)
NM_000400.4(ERCC2):c.722A>C (p.Asn241Thr)
NM_000400.4(ERCC2):c.724G>A (p.Val242Ile)
NM_000400.4(ERCC2):c.730A>C (p.Ile244Leu)
NM_000400.4(ERCC2):c.731T>C (p.Ile244Thr)
NM_000400.4(ERCC2):c.73A>C (p.Met25Leu)
NM_000400.4(ERCC2):c.73A>T (p.Met25Leu)
NM_000400.4(ERCC2):c.741G>C (p.Met247Ile)
NM_000400.4(ERCC2):c.744C>G (p.Ser248Arg)
NM_000400.4(ERCC2):c.746T>A (p.Val249Asp)
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.4(ERCC2):c.749A>G (p.Asn250Ser)
NM_000400.4(ERCC2):c.749A>T (p.Asn250Ile)
NM_000400.4(ERCC2):c.755C>A (p.Thr252Asn)
NM_000400.4(ERCC2):c.755C>T (p.Thr252Ile)
NM_000400.4(ERCC2):c.757C>A (p.Arg253Ser)
NM_000400.4(ERCC2):c.760C>G (p.Arg254Gly)
NM_000400.4(ERCC2):c.761G>A (p.Arg254Gln)
NM_000400.4(ERCC2):c.761G>C (p.Arg254Pro)
NM_000400.4(ERCC2):c.764C>T (p.Thr255Ile)
NM_000400.4(ERCC2):c.767T>C (p.Leu256Pro)
NM_000400.4(ERCC2):c.769G>A (p.Asp257Asn)
NM_000400.4(ERCC2):c.76C>T (p.Arg26Trp)
NM_000400.4(ERCC2):c.77G>A (p.Arg26Gln)
NM_000400.4(ERCC2):c.784A>G (p.Asn262Asp)
NM_000400.4(ERCC2):c.787C>G (p.Leu263Val)
NM_000400.4(ERCC2):c.790G>C (p.Glu264Gln)
NM_000400.4(ERCC2):c.791A>G (p.Glu264Gly)
NM_000400.4(ERCC2):c.793A>G (p.Thr265Ala)
NM_000400.4(ERCC2):c.806C>T (p.Thr269Met)
NM_000400.4(ERCC2):c.817A>C (p.Ile273Leu)
NM_000400.4(ERCC2):c.817A>T (p.Ile273Phe)
NM_000400.4(ERCC2):c.819C>G (p.Ile273Met)
NM_000400.4(ERCC2):c.820A>G (p.Lys274Glu)
NM_000400.4(ERCC2):c.824A>G (p.Glu275Gly)
NM_000400.4(ERCC2):c.825G>C (p.Glu275Asp)
NM_000400.4(ERCC2):c.832G>A (p.Glu278Lys) rs1972333258
NM_000400.4(ERCC2):c.835C>A (p.Gln279Lys)
NM_000400.4(ERCC2):c.838C>T (p.Arg280Cys)
NM_000400.4(ERCC2):c.839G>C (p.Arg280Pro)
NM_000400.4(ERCC2):c.845G>A (p.Arg282Gln)
NM_000400.4(ERCC2):c.845G>T (p.Arg282Leu)
NM_000400.4(ERCC2):c.848A>T (p.Asp283Val)
NM_000400.4(ERCC2):c.850G>C (p.Glu284Gln) rs1054768577
NM_000400.4(ERCC2):c.859C>T (p.Arg287Cys)
NM_000400.4(ERCC2):c.865G>A (p.Val289Met)
NM_000400.4(ERCC2):c.86A>C (p.Lys29Thr)
NM_000400.4(ERCC2):c.875T>C (p.Leu292Pro)
NM_000400.4(ERCC2):c.877C>T (p.Arg293Trp)
NM_000400.4(ERCC2):c.87A>C (p.Lys29Asn)
NM_000400.4(ERCC2):c.880G>A (p.Glu294Lys)
NM_000400.4(ERCC2):c.881A>C (p.Glu294Ala)
NM_000400.4(ERCC2):c.887G>A (p.Ser296Asn)
NM_000400.4(ERCC2):c.889G>A (p.Ala297Thr)
NM_000400.4(ERCC2):c.88C>T (p.Arg30Cys)
NM_000400.4(ERCC2):c.892G>A (p.Ala298Thr)
NM_000400.4(ERCC2):c.895C>G (p.Arg299Gly)
NM_000400.4(ERCC2):c.898G>C (p.Glu300Gln)
NM_000400.4(ERCC2):c.910C>T (p.His304Tyr)
NM_000400.4(ERCC2):c.917C>T (p.Ala306Val)
NM_000400.4(ERCC2):c.919A>C (p.Asn307His)
NM_000400.4(ERCC2):c.921C>A (p.Asn307Lys)
NM_000400.4(ERCC2):c.921C>G (p.Asn307Lys)
NM_000400.4(ERCC2):c.922C>T (p.Pro308Ser)
NM_000400.4(ERCC2):c.923C>T (p.Pro308Leu)
NM_000400.4(ERCC2):c.936C>G (p.Asp312Glu)
NM_000400.4(ERCC2):c.937G>A (p.Glu313Lys)
NM_000400.4(ERCC2):c.940G>C (p.Val314Leu)
NM_000400.4(ERCC2):c.940G>T (p.Val314Leu)
NM_000400.4(ERCC2):c.946C>A (p.Gln316Lys)
NM_000400.4(ERCC2):c.948G>C (p.Gln316His)
NM_000400.4(ERCC2):c.948G>T (p.Gln316His)
NM_000400.4(ERCC2):c.952G>T (p.Ala318Ser)
NM_000400.4(ERCC2):c.965C>T (p.Ser322Phe)
NM_000400.4(ERCC2):c.970C>T (p.Arg324Cys)
NM_000400.4(ERCC2):c.971G>A (p.Arg324His)
NM_000400.4(ERCC2):c.971G>C (p.Arg324Pro)
NM_000400.4(ERCC2):c.979G>A (p.Glu327Lys)
NM_000400.4(ERCC2):c.980A>T (p.Glu327Val)
NM_000400.4(ERCC2):c.997C>G (p.Leu333Val)
NM_000400.4(ERCC2):c.998T>C (p.Leu333Pro)

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