ClinVar Miner

List of variants in gene ERCC2 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 549
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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.1632C>T (p.Tyr544=) rs147605089 0.00146
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.1737C>T (p.Val579=) rs3916876 0.00096
NM_000400.4(ERCC2):c.138C>T (p.Thr46=) rs141391238 0.00068
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) rs147128863 0.00041
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) rs116544270 0.00027
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.1323G>A (p.Ser441=) rs147850061 0.00019
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.1317C>T (p.Asp439=) rs200588470 0.00013
NM_000400.4(ERCC2):c.381G>A (p.Gly127=) rs775235491 0.00013
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.1776C>T (p.Arg592=) rs143680124 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
NM_000400.4(ERCC2):c.297C>T (p.Gly99=) rs200953364 0.00010
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) rs769750286 0.00010
NM_000400.4(ERCC2):c.1641C>T (p.Ser547=) rs144456449 0.00009
NM_000400.4(ERCC2):c.1794A>C (p.Ser598=) rs150346978 0.00009
NM_000400.4(ERCC2):c.2022C>T (p.Tyr674=) rs560408084 0.00009
NM_000400.4(ERCC2):c.873G>A (p.Gly291=) rs552090174 0.00008
NM_000400.4(ERCC2):c.1302C>T (p.His434=) rs756799718 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.2221C>T (p.Leu741=) rs370170190 0.00006
NM_000400.4(ERCC2):c.435G>A (p.Gln145=) rs768323294 0.00006
NM_000400.4(ERCC2):c.195G>T (p.Leu65=) rs770029166 0.00005
NM_000400.4(ERCC2):c.1389G>A (p.Pro463=) rs773585168 0.00004
NM_000400.4(ERCC2):c.1476T>A (p.Pro492=) rs762162540 0.00004
NM_000400.4(ERCC2):c.1485C>T (p.Ile495=) rs758510144 0.00004
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007 0.00004
NM_000400.4(ERCC2):c.702C>T (p.Asp234=) rs776883648 0.00004
NM_000400.4(ERCC2):c.846G>A (p.Arg282=) rs527681176 0.00004
NM_000400.4(ERCC2):c.915G>A (p.Leu305=) rs748245861 0.00004
NM_000400.4(ERCC2):c.974C>T (p.Thr325Met) rs530045760 0.00004
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=) rs372468267 0.00003
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=) rs375824454 0.00003
NM_000400.4(ERCC2):c.1875C>T (p.Tyr625=) rs146538967 0.00003
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) rs200756227 0.00003
NM_000400.4(ERCC2):c.57C>T (p.Pro19=) rs369106754 0.00003
NM_000400.4(ERCC2):c.717T>A (p.Ile239=) rs768954113 0.00003
NM_000400.4(ERCC2):c.1215C>T (p.Thr405=) rs531022685 0.00002
NM_000400.4(ERCC2):c.132A>G (p.Ser44=) rs748539571 0.00002
NM_000400.4(ERCC2):c.1338C>T (p.Pro446=) rs774542180 0.00002
NM_000400.4(ERCC2):c.1605C>T (p.Ile535=) rs761413186 0.00002
NM_000400.4(ERCC2):c.1704T>C (p.Phe568=) rs141944141 0.00002
NM_000400.4(ERCC2):c.275A>G (p.Asn92Ser) rs780965895 0.00002
NM_000400.4(ERCC2):c.1167C>T (p.Thr389=) rs765430756 0.00001
NM_000400.4(ERCC2):c.1191C>T (p.Leu397=) rs1189911022 0.00001
NM_000400.4(ERCC2):c.1293C>A (p.Pro431=) rs145729219 0.00001
NM_000400.4(ERCC2):c.1350T>C (p.Arg450=) rs923498295 0.00001
NM_000400.4(ERCC2):c.1680C>T (p.Asn560=) rs764239667 0.00001
NM_000400.4(ERCC2):c.174A>G (p.Ala58=) rs1367987660 0.00001
NM_000400.4(ERCC2):c.2016G>A (p.Thr672=) rs761981570 0.00001
NM_000400.4(ERCC2):c.2142C>G (p.Val714=) rs546902024 0.00001
NM_000400.4(ERCC2):c.309G>A (p.Pro103=) rs371383715 0.00001
NM_000400.4(ERCC2):c.348T>C (p.Cys116=) rs769231981 0.00001
NM_000400.4(ERCC2):c.423T>C (p.Tyr141=) rs766606311 0.00001
NM_000400.4(ERCC2):c.42C>T (p.Tyr14=) rs141622611 0.00001
NM_000400.4(ERCC2):c.69C>T (p.Ser23=) rs1479282079 0.00001
NM_000400.4(ERCC2):c.744C>T (p.Ser248=) rs754792441 0.00001
NM_000400.4(ERCC2):c.798G>A (p.Leu266=) rs368540634 0.00001
NM_000400.4(ERCC2):c.936C>T (p.Asp312=) rs747301897 0.00001
NM_000400.4(ERCC2):c.975G>C (p.Thr325=) rs758495395 0.00001
NM_000400.4(ERCC2):c.978C>T (p.Ala326=) rs746258199 0.00001
NM_000400.4(ERCC2):c.1017C>T (p.Tyr339=)
NM_000400.4(ERCC2):c.1027C>A (p.Arg343=)
NM_000400.4(ERCC2):c.1029G>A (p.Arg343=)
NM_000400.4(ERCC2):c.1029G>T (p.Arg343=)
NM_000400.4(ERCC2):c.102C>T (p.Ala34=)
NM_000400.4(ERCC2):c.1032G>A (p.Leu344=)
NM_000400.4(ERCC2):c.1032G>C (p.Leu344=)
NM_000400.4(ERCC2):c.1038G>A (p.Val346=)
NM_000400.4(ERCC2):c.1047G>C (p.Val349=)
NM_000400.4(ERCC2):c.1053G>A (p.Gln351=) rs944352981
NM_000400.4(ERCC2):c.1056G>A (p.Glu352=)
NM_000400.4(ERCC2):c.1059C>T (p.Ser353=)
NM_000400.4(ERCC2):c.1062G>A (p.Pro354=)
NM_000400.4(ERCC2):c.1065C>G (p.Pro355=)
NM_000400.4(ERCC2):c.1065C>T (p.Pro355=)
NM_000400.4(ERCC2):c.1068C>T (p.Ala356=)
NM_000400.4(ERCC2):c.1071C>T (p.Phe357=)
NM_000400.4(ERCC2):c.1072C>T (p.Leu358=)
NM_000400.4(ERCC2):c.1074G>A (p.Leu358=)
NM_000400.4(ERCC2):c.1074G>C (p.Leu358=)
NM_000400.4(ERCC2):c.1077C>T (p.Ser359=)
NM_000400.4(ERCC2):c.1080C>G (p.Gly360=)
NM_000400.4(ERCC2):c.1081C>T (p.Leu361=)
NM_000400.4(ERCC2):c.1083G>A (p.Leu361=) rs2123285412
NM_000400.4(ERCC2):c.1086C>A (p.Ala362=)
NM_000400.4(ERCC2):c.1089G>A (p.Gln363=)
NM_000400.4(ERCC2):c.1092C>G (p.Arg364=)
NM_000400.4(ERCC2):c.1092C>T (p.Arg364=)
NM_000400.4(ERCC2):c.1095G>C (p.Val365=)
NM_000400.4(ERCC2):c.1098C>T (p.Cys366=)
NM_000400.4(ERCC2):c.1107C>G (p.Arg369=)
NM_000400.4(ERCC2):c.1116C>G (p.Leu372=)
NM_000400.4(ERCC2):c.111T>C (p.His37=)
NM_000400.4(ERCC2):c.1122C>T (p.Phe374=)
NM_000400.4(ERCC2):c.1128T>G (p.Ala376=)
NM_000400.4(ERCC2):c.1131A>G (p.Glu377=)
NM_000400.4(ERCC2):c.1134C>T (p.Arg378=)
NM_000400.4(ERCC2):c.1140G>C (p.Arg380=)
NM_000400.4(ERCC2):c.1144C>T (p.Leu382=)
NM_000400.4(ERCC2):c.1147C>T (p.Leu383=)
NM_000400.4(ERCC2):c.1149G>C (p.Leu383=)
NM_000400.4(ERCC2):c.114A>C (p.Gly38=)
NM_000400.4(ERCC2):c.114A>G (p.Gly38=)
NM_000400.4(ERCC2):c.1155T>C (p.Thr385=)
NM_000400.4(ERCC2):c.1156C>T (p.Leu386=)
NM_000400.4(ERCC2):c.1164C>A (p.Ile388=)
NM_000400.4(ERCC2):c.1164C>T (p.Ile388=)
NM_000400.4(ERCC2):c.1170C>T (p.Asp390=) rs1599739474
NM_000400.4(ERCC2):c.1182C>T (p.Phe394=)
NM_000400.4(ERCC2):c.1188G>A (p.Pro396=)
NM_000400.4(ERCC2):c.1188G>T (p.Pro396=)
NM_000400.4(ERCC2):c.118C>T (p.Leu40=)
NM_000400.4(ERCC2):c.1194C>T (p.Thr398=)
NM_000400.4(ERCC2):c.1212C>T (p.Ala404=)
NM_000400.4(ERCC2):c.1215C>G (p.Thr405=)
NM_000400.4(ERCC2):c.1224C>T (p.Ser408=)
NM_000400.4(ERCC2):c.1227C>T (p.Thr409=)
NM_000400.4(ERCC2):c.1230C>T (p.Tyr410=)
NM_000400.4(ERCC2):c.1233C>T (p.Ala411=)
NM_000400.4(ERCC2):c.1239C>T (p.Gly413=)
NM_000400.4(ERCC2):c.1248C>A (p.Ile416=)
NM_000400.4(ERCC2):c.1251C>T (p.Ile417=)
NM_000400.4(ERCC2):c.1254C>T (p.Ile418=)
NM_000400.4(ERCC2):c.1257G>A (p.Glu419=)
NM_000400.4(ERCC2):c.1260C>G (p.Pro420=)
NM_000400.4(ERCC2):c.1263T>C (p.Phe421=)
NM_000400.4(ERCC2):c.1269C>T (p.Asp423=)
NM_000400.4(ERCC2):c.1275C>G (p.Thr425=)
NM_000400.4(ERCC2):c.1278G>C (p.Pro426=)
NM_000400.4(ERCC2):c.1281C>A (p.Thr427=)
NM_000400.4(ERCC2):c.1281C>T (p.Thr427=)
NM_000400.4(ERCC2):c.1287C>T (p.Ala429=)
NM_000400.4(ERCC2):c.1290C>T (p.Asn430=)
NM_000400.4(ERCC2):c.1296C>T (p.Ile432=)
NM_000400.4(ERCC2):c.1297C>T (p.Leu433=)
NM_000400.4(ERCC2):c.129C>G (p.Pro43=)
NM_000400.4(ERCC2):c.129C>T (p.Pro43=)
NM_000400.4(ERCC2):c.12C>T (p.Asn4=)
NM_000400.4(ERCC2):c.1320C>G (p.Ala440=)
NM_000400.4(ERCC2):c.1320C>T (p.Ala440=)
NM_000400.4(ERCC2):c.1323G>C (p.Ser441=)
NM_000400.4(ERCC2):c.1324C>T (p.Leu442=)
NM_000400.4(ERCC2):c.1338C>A (p.Pro446=)
NM_000400.4(ERCC2):c.1341A>G (p.Val447=)
NM_000400.4(ERCC2):c.1353C>T (p.Phe451=)
NM_000400.4(ERCC2):c.135C>G (p.Gly45=)
NM_000400.4(ERCC2):c.1362C>G (p.Val454=)
NM_000400.4(ERCC2):c.1362C>T (p.Val454=)
NM_000400.4(ERCC2):c.1371A>G (p.Thr457=)
NM_000400.4(ERCC2):c.1380A>G (p.Thr460=)
NM_000400.4(ERCC2):c.1381C>T (p.Leu461=)
NM_000400.4(ERCC2):c.1386C>G (p.Ser462=)
NM_000400.4(ERCC2):c.1386C>T (p.Ser462=)
NM_000400.4(ERCC2):c.138C>A (p.Thr46=)
NM_000400.4(ERCC2):c.1395C>T (p.Asp465=)
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=) rs886054497
NM_000400.4(ERCC2):c.1410C>T (p.Ile470=)
NM_000400.4(ERCC2):c.1411C>T (p.Leu471=)
NM_000400.4(ERCC2):c.1416C>T (p.Asp472=)
NM_000400.4(ERCC2):c.1419C>T (p.Phe473=)
NM_000400.4(ERCC2):c.1425C>G (p.Pro475=)
NM_000400.4(ERCC2):c.1425C>T (p.Pro475=)
NM_000400.4(ERCC2):c.1440C>T (p.Thr480=)
NM_000400.4(ERCC2):c.1443C>T (p.Phe481=)
NM_000400.4(ERCC2):c.1446C>T (p.Thr482=)
NM_000400.4(ERCC2):c.1452G>A (p.Thr484=)
NM_000400.4(ERCC2):c.1467C>T (p.Cys489=)
NM_000400.4(ERCC2):c.1470C>T (p.Leu490=)
NM_000400.4(ERCC2):c.1473C>T (p.Cys491=)
NM_000400.4(ERCC2):c.1482C>T (p.Ile494=)
NM_000400.4(ERCC2):c.1491T>G (p.Arg497=)
NM_000400.4(ERCC2):c.1494C>A (p.Gly498=)
NM_000400.4(ERCC2):c.1497T>C (p.Asn499=)
NM_000400.4(ERCC2):c.1509C>T (p.Ala503=)
NM_000400.4(ERCC2):c.1518C>T (p.Ser506=)
NM_000400.4(ERCC2):c.1527G>A (p.Glu509=)
NM_000400.4(ERCC2):c.1530C>T (p.Thr510=)
NM_000400.4(ERCC2):c.1533G>A (p.Arg511=)
NM_000400.4(ERCC2):c.1548G>A (p.Val516=)
NM_000400.4(ERCC2):c.1551C>T (p.Ile517=)
NM_000400.4(ERCC2):c.1554G>A (p.Arg518=)
NM_000400.4(ERCC2):c.1554G>T (p.Arg518=)
NM_000400.4(ERCC2):c.1560T>C (p.Tyr520=)
NM_000400.4(ERCC2):c.1566C>T (p.Asn522=)
NM_000400.4(ERCC2):c.1569C>A (p.Leu523=)
NM_000400.4(ERCC2):c.1570C>T (p.Leu524=)
NM_000400.4(ERCC2):c.1575G>A (p.Leu525=)
NM_000400.4(ERCC2):c.1578G>A (p.Glu526=)
NM_000400.4(ERCC2):c.157T>C (p.Leu53=)
NM_000400.4(ERCC2):c.1584C>G (p.Ser528=)
NM_000400.4(ERCC2):c.1584C>T (p.Ser528=)
NM_000400.4(ERCC2):c.1593C>A (p.Val531=)
NM_000400.4(ERCC2):c.1593C>G (p.Val531=)
NM_000400.4(ERCC2):c.1596T>C (p.Pro532=)
NM_000400.4(ERCC2):c.15G>A (p.Val5=)
NM_000400.4(ERCC2):c.1602C>T (p.Gly534=)
NM_000400.4(ERCC2):c.1605C>A (p.Ile535=)
NM_000400.4(ERCC2):c.1608G>A (p.Val536=)
NM_000400.4(ERCC2):c.1611C>T (p.Ala537=) rs2123237502
NM_000400.4(ERCC2):c.1614C>T (p.Phe538=)
NM_000400.4(ERCC2):c.1617C>T (p.Phe539=)
NM_000400.4(ERCC2):c.1623C>T (p.Ser541=)
NM_000400.4(ERCC2):c.162C>T (p.Ala54=)
NM_000400.4(ERCC2):c.1644C>A (p.Thr548=)
NM_000400.4(ERCC2):c.1647G>A (p.Val549=)
NM_000400.4(ERCC2):c.1668G>A (p.Gly556=)
NM_000400.4(ERCC2):c.1668G>C (p.Gly556=)
NM_000400.4(ERCC2):c.1668G>T (p.Gly556=)
NM_000400.4(ERCC2):c.1671C>T (p.Ile557=)
NM_000400.4(ERCC2):c.1674T>G (p.Leu558=)
NM_000400.4(ERCC2):c.1683C>T (p.Ile561=)
NM_000400.4(ERCC2):c.1689G>A (p.Arg563=)
NM_000400.4(ERCC2):c.168C>T (p.Ile56=)
NM_000400.4(ERCC2):c.1692C>T (p.Asn564=)
NM_000400.4(ERCC2):c.1696C>T (p.Leu566=)
NM_000400.4(ERCC2):c.1698G>A (p.Leu566=)
NM_000400.4(ERCC2):c.1701C>T (p.Leu567=)
NM_000400.4(ERCC2):c.1713C>G (p.Thr571=)
NM_000400.4(ERCC2):c.1722T>C (p.Gly574=)
NM_000400.4(ERCC2):c.1725C>A (p.Ala575=) rs116544270
NM_000400.4(ERCC2):c.1725C>G (p.Ala575=)
NM_000400.4(ERCC2):c.1731C>G (p.Thr577=)
NM_000400.4(ERCC2):c.1731C>T (p.Thr577=)
NM_000400.4(ERCC2):c.1734T>C (p.Ser578=)
NM_000400.4(ERCC2):c.1737C>A (p.Val579=)
NM_000400.4(ERCC2):c.1743G>A (p.Leu581=)
NM_000400.4(ERCC2):c.1752C>T (p.Tyr584=)
NM_000400.4(ERCC2):c.1755G>A (p.Gln585=)
NM_000400.4(ERCC2):c.1761C>T (p.Ala587=)
NM_000400.4(ERCC2):c.1764C>T (p.Cys588=)
NM_000400.4(ERCC2):c.1776C>A (p.Arg592=)
NM_000400.4(ERCC2):c.1776C>G (p.Arg592=)
NM_000400.4(ERCC2):c.177C>T (p.Tyr59=)
NM_000400.4(ERCC2):c.1782C>G (p.Ala594=)
NM_000400.4(ERCC2):c.1782C>T (p.Ala594=)
NM_000400.4(ERCC2):c.1785C>A (p.Ile595=)
NM_000400.4(ERCC2):c.1786C>T (p.Leu596=)
NM_000400.4(ERCC2):c.1788G>T (p.Leu596=)
NM_000400.4(ERCC2):c.1791G>A (p.Leu597=)
NM_000400.4(ERCC2):c.1791G>T (p.Leu597=)
NM_000400.4(ERCC2):c.1797G>A (p.Val599=)
NM_000400.4(ERCC2):c.1801C>A (p.Arg601=)
NM_000400.4(ERCC2):c.1803G>A (p.Arg601=)
NM_000400.4(ERCC2):c.1806C>A (p.Gly602=)
NM_000400.4(ERCC2):c.1806C>T (p.Gly602=)
NM_000400.4(ERCC2):c.1812G>A (p.Val604=)
NM_000400.4(ERCC2):c.1812G>T (p.Val604=)
NM_000400.4(ERCC2):c.1815C>A (p.Ser605=)
NM_000400.4(ERCC2):c.1815C>G (p.Ser605=)
NM_000400.4(ERCC2):c.1824C>A (p.Ile608=) rs755145728
NM_000400.4(ERCC2):c.1824C>T (p.Ile608=) rs755145728
NM_000400.4(ERCC2):c.1827C>T (p.Asp609=)
NM_000400.4(ERCC2):c.1836C>T (p.His612=)
NM_000400.4(ERCC2):c.1839C>T (p.His613=)
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.1851C>A (p.Ala617=)
NM_000400.4(ERCC2):c.1851C>T (p.Ala617=)
NM_000400.4(ERCC2):c.1857C>T (p.Ile619=)
NM_000400.4(ERCC2):c.1866C>A (p.Gly622=)
NM_000400.4(ERCC2):c.1869C>T (p.Val623=)
NM_000400.4(ERCC2):c.186A>G (p.Ala62=)
NM_000400.4(ERCC2):c.186A>T (p.Ala62=)
NM_000400.4(ERCC2):c.1878C>T (p.Val626=)
NM_000400.4(ERCC2):c.1893C>T (p.Arg631=)
NM_000400.4(ERCC2):c.1899C>T (p.Leu633=)
NM_000400.4(ERCC2):c.189T>C (p.Tyr63=)
NM_000400.4(ERCC2):c.1905G>T (p.Ala635=)
NM_000400.4(ERCC2):c.1908G>A (p.Arg636=)
NM_000400.4(ERCC2):c.1908G>C (p.Arg636=)
NM_000400.4(ERCC2):c.1917C>T (p.Tyr639=)
NM_000400.4(ERCC2):c.1918C>T (p.Leu640=)
NM_000400.4(ERCC2):c.1920G>A (p.Leu640=)
NM_000400.4(ERCC2):c.1923G>A (p.Arg641=)
NM_000400.4(ERCC2):c.1926C>T (p.Asp642=)
NM_000400.4(ERCC2):c.1929G>A (p.Gln643=)
NM_000400.4(ERCC2):c.192G>A (p.Pro64=)
NM_000400.4(ERCC2):c.193C>T (p.Leu65=)
NM_000400.4(ERCC2):c.1941T>A (p.Arg647=)
NM_000400.4(ERCC2):c.1944G>A (p.Glu648=)
NM_000400.4(ERCC2):c.1956T>C (p.Leu652=)
NM_000400.4(ERCC2):c.1959C>T (p.Thr653=)
NM_000400.4(ERCC2):c.195G>A (p.Leu65=)
NM_000400.4(ERCC2):c.1965T>C (p.Asp655=)
NM_000400.4(ERCC2):c.1968C>A (p.Ala656=)
NM_000400.4(ERCC2):c.1968C>T (p.Ala656=)
NM_000400.4(ERCC2):c.1974C>T (p.Arg658=)
NM_000400.4(ERCC2):c.1977C>T (p.His659=)
NM_000400.4(ERCC2):c.1980G>A (p.Ala660=)
NM_000400.4(ERCC2):c.1980G>T (p.Ala660=)
NM_000400.4(ERCC2):c.1983C>T (p.Ala661=)
NM_000400.4(ERCC2):c.1992G>C (p.Val664=)
NM_000400.4(ERCC2):c.2001C>T (p.Ala667=) rs780813006
NM_000400.4(ERCC2):c.2005A>C (p.Arg669=)
NM_000400.4(ERCC2):c.2010C>A (p.Gly670=)
NM_000400.4(ERCC2):c.201G>C (p.Val67=)
NM_000400.4(ERCC2):c.2025C>T (p.Gly675=) rs753388716
NM_000400.4(ERCC2):c.2028C>T (p.Leu676=)
NM_000400.4(ERCC2):c.2034C>T (p.Val678=)
NM_000400.4(ERCC2):c.2043C>T (p.Asp681=)
NM_000400.4(ERCC2):c.2049G>A (p.Arg683=)
NM_000400.4(ERCC2):c.204C>T (p.Thr68=)
NM_000400.4(ERCC2):c.2055C>G (p.Ala685=)
NM_000400.4(ERCC2):c.2058T>G (p.Arg686=)
NM_000400.4(ERCC2):c.2061G>A (p.Gly687=)
NM_000400.4(ERCC2):c.2061G>C (p.Gly687=)
NM_000400.4(ERCC2):c.2061G>T (p.Gly687=)
NM_000400.4(ERCC2):c.2064C>T (p.Asp688=)
NM_000400.4(ERCC2):c.2068C>A (p.Arg690=)
NM_000400.4(ERCC2):c.2070G>A (p.Arg690=)
NM_000400.4(ERCC2):c.2073G>A (p.Gly691=)
NM_000400.4(ERCC2):c.2077C>T (p.Leu693=)
NM_000400.4(ERCC2):c.2082C>A (p.Pro694=)
NM_000400.4(ERCC2):c.2082C>G (p.Pro694=)
NM_000400.4(ERCC2):c.2082C>T (p.Pro694=)
NM_000400.4(ERCC2):c.2097G>A (p.Glu699=)
NM_000400.4(ERCC2):c.2109T>C (p.Asp703=)
NM_000400.4(ERCC2):c.210C>T (p.Leu70=)
NM_000400.4(ERCC2):c.2115C>T (p.Asn705=) rs1438671792
NM_000400.4(ERCC2):c.2118C>G (p.Leu706=)
NM_000400.4(ERCC2):c.2121C>T (p.Asn707=)
NM_000400.4(ERCC2):c.2122C>T (p.Leu708=)
NM_000400.4(ERCC2):c.2124G>A (p.Leu708=)
NM_000400.4(ERCC2):c.2127C>A (p.Thr709=)
NM_000400.4(ERCC2):c.2130G>A (p.Val710=)
NM_000400.4(ERCC2):c.2139T>G (p.Gly713=)
NM_000400.4(ERCC2):c.213C>A (p.Ile71=) rs541205205
NM_000400.4(ERCC2):c.213C>T (p.Ile71=)
NM_000400.4(ERCC2):c.2142C>T (p.Val714=)
NM_000400.4(ERCC2):c.2151C>A (p.Ala717=)
NM_000400.4(ERCC2):c.2151C>G (p.Ala717=)
NM_000400.4(ERCC2):c.2154G>A (p.Lys718=)
NM_000400.4(ERCC2):c.2160C>T (p.Phe720=)
NM_000400.4(ERCC2):c.2161C>T (p.Leu721=)
NM_000400.4(ERCC2):c.2164C>A (p.Arg722=)
NM_000400.4(ERCC2):c.2166G>T (p.Arg722=)
NM_000400.4(ERCC2):c.2169G>A (p.Gln723=)
NM_000400.4(ERCC2):c.216C>T (p.Tyr72=)
NM_000400.4(ERCC2):c.2175A>G (p.Ala725=)
NM_000400.4(ERCC2):c.2178G>A (p.Gln726=)
NM_000400.4(ERCC2):c.2181C>T (p.Pro727=)
NM_000400.4(ERCC2):c.2187C>T (p.His729=)
NM_000400.4(ERCC2):c.2199G>A (p.Gln733=)
NM_000400.4(ERCC2):c.219C>T (p.Cys73=)
NM_000400.4(ERCC2):c.21G>A (p.Gly7=)
NM_000400.4(ERCC2):c.2205C>T (p.Gly735=)
NM_000400.4(ERCC2):c.2206C>T (p.Leu736=)
NM_000400.4(ERCC2):c.2211C>G (p.Ser737=)
NM_000400.4(ERCC2):c.2211C>T (p.Ser737=)
NM_000400.4(ERCC2):c.2212C>T (p.Leu738=)
NM_000400.4(ERCC2):c.2214G>A (p.Leu738=)
NM_000400.4(ERCC2):c.2217C>G (p.Leu739=)
NM_000400.4(ERCC2):c.2217C>T (p.Leu739=)
NM_000400.4(ERCC2):c.2226G>A (p.Glu742=)
NM_000400.4(ERCC2):c.2230C>T (p.Leu744=)
NM_000400.4(ERCC2):c.2232A>G (p.Leu744=)
NM_000400.4(ERCC2):c.2232A>T (p.Leu744=)
NM_000400.4(ERCC2):c.2233G>C (p.Glu745Gln)
NM_000400.4(ERCC2):c.2238A>G (p.Ser746=)
NM_000400.4(ERCC2):c.2244G>A (p.Glu748=)
NM_000400.4(ERCC2):c.2250G>A (p.Leu750=)
NM_000400.4(ERCC2):c.2250G>C (p.Leu750=)
NM_000400.4(ERCC2):c.2253G>A (p.Lys751=)
NM_000400.4(ERCC2):c.2256G>A (p.Arg752=)
NM_000400.4(ERCC2):c.2262G>A (p.Glu754=)
NM_000400.4(ERCC2):c.2268T>A (p.Ile756=)
NM_000400.4(ERCC2):c.2274G>A (p.Gln758=)
NM_000400.4(ERCC2):c.24C>G (p.Leu8=)
NM_000400.4(ERCC2):c.252T>A (p.Ile84=)
NM_000400.4(ERCC2):c.255A>G (p.Glu85=)
NM_000400.4(ERCC2):c.261T>G (p.Leu87=)
NM_000400.4(ERCC2):c.262C>A (p.Arg88=)
NM_000400.4(ERCC2):c.264A>C (p.Arg88=)
NM_000400.4(ERCC2):c.264A>G (p.Arg88=)
NM_000400.4(ERCC2):c.27G>A (p.Leu9=)
NM_000400.4(ERCC2):c.27G>C (p.Leu9=)
NM_000400.4(ERCC2):c.282T>C (p.Tyr94=)
NM_000400.4(ERCC2):c.288G>A (p.Lys96=)
NM_000400.4(ERCC2):c.294G>A (p.Glu98=)
NM_000400.4(ERCC2):c.303G>A (p.Lys101=)
NM_000400.4(ERCC2):c.306G>C (p.Leu102=)
NM_000400.4(ERCC2):c.309G>C (p.Pro103=)
NM_000400.4(ERCC2):c.309G>T (p.Pro103=)
NM_000400.4(ERCC2):c.319C>T (p.Leu107=)
NM_000400.4(ERCC2):c.325C>T (p.Leu109=)
NM_000400.4(ERCC2):c.333C>G (p.Ser111=)
NM_000400.4(ERCC2):c.333C>T (p.Ser111=)
NM_000400.4(ERCC2):c.339A>G (p.Lys113=)
NM_000400.4(ERCC2):c.343T>C (p.Leu115=)
NM_000400.4(ERCC2):c.354C>T (p.His118=)
NM_000400.4(ERCC2):c.366A>G (p.Thr122=)
NM_000400.4(ERCC2):c.369C>T (p.Pro123=)
NM_000400.4(ERCC2):c.36C>T (p.Phe12=)
NM_000400.4(ERCC2):c.370C>T (p.Leu124=)
NM_000400.4(ERCC2):c.375C>T (p.Arg125=)
NM_000400.4(ERCC2):c.378T>C (p.Phe126=)
NM_000400.4(ERCC2):c.390C>T (p.Val130=)
NM_000400.4(ERCC2):c.393T>C (p.Asp131=)
NM_000400.4(ERCC2):c.396G>A (p.Gly132=)
NM_000400.4(ERCC2):c.39G>T (p.Pro13=)
NM_000400.4(ERCC2):c.405C>T (p.His135=)
NM_000400.4(ERCC2):c.408C>T (p.Ser136=)
NM_000400.4(ERCC2):c.411C>T (p.Leu137=)
NM_000400.4(ERCC2):c.414A>T (p.Thr138=)
NM_000400.4(ERCC2):c.426G>A (p.Val142=)
NM_000400.4(ERCC2):c.429G>C (p.Arg143=)
NM_000400.4(ERCC2):c.432G>A (p.Ala144=)
NM_000400.4(ERCC2):c.432G>T (p.Ala144=)
NM_000400.4(ERCC2):c.438C>T (p.Tyr146=)
NM_000400.4(ERCC2):c.447C>T (p.Asp149=)
NM_000400.4(ERCC2):c.450C>A (p.Thr150=)
NM_000400.4(ERCC2):c.450C>T (p.Thr150=)
NM_000400.4(ERCC2):c.453C>T (p.Ser151=)
NM_000400.4(ERCC2):c.454C>T (p.Leu152=)
NM_000400.4(ERCC2):c.45C>T (p.Asp15=)
NM_000400.4(ERCC2):c.471C>T (p.Phe157=)
NM_000400.4(ERCC2):c.488C>T (p.Ala163Val)
NM_000400.4(ERCC2):c.489C>G (p.Ala163=)
NM_000400.4(ERCC2):c.48C>T (p.Tyr16=)
NM_000400.4(ERCC2):c.492T>C (p.His164=)
NM_000400.4(ERCC2):c.498T>C (p.Arg166=)
NM_000400.4(ERCC2):c.501G>A (p.Glu167=)
NM_000400.4(ERCC2):c.504G>A (p.Val168=)
NM_000400.4(ERCC2):c.507C>T (p.Pro169=)
NM_000400.4(ERCC2):c.510C>A (p.Leu170=)
NM_000400.4(ERCC2):c.513C>T (p.Pro171=)
NM_000400.4(ERCC2):c.519C>G (p.Gly173=)
NM_000400.4(ERCC2):c.519C>T (p.Gly173=)
NM_000400.4(ERCC2):c.51C>T (p.Ile17=)
NM_000400.4(ERCC2):c.531G>T (p.Leu177=)
NM_000400.4(ERCC2):c.534T>C (p.Asp178=) rs767092931
NM_000400.4(ERCC2):c.537C>T (p.Asp179=)
NM_000400.4(ERCC2):c.538C>T (p.Leu180=)
NM_000400.4(ERCC2):c.549G>A (p.Leu183=)
NM_000400.4(ERCC2):c.54C>T (p.Tyr18=)
NM_000400.4(ERCC2):c.554G>A (p.Arg185Gln)
NM_000400.4(ERCC2):c.558C>T (p.Arg186=)
NM_000400.4(ERCC2):c.573A>T (p.Pro191=)
NM_000400.4(ERCC2):c.579C>T (p.Phe193=)
NM_000400.4(ERCC2):c.57C>G (p.Pro19=)
NM_000400.4(ERCC2):c.598C>T (p.Leu200=)
NM_000400.4(ERCC2):c.606C>T (p.Ala202=) rs1202714195
NM_000400.4(ERCC2):c.609T>C (p.Asn203=)
NM_000400.4(ERCC2):c.630C>T (p.His210=)
NM_000400.4(ERCC2):c.639G>A (p.Leu213=)
NM_000400.4(ERCC2):c.63G>A (p.Gln21=)
NM_000400.4(ERCC2):c.642C>T (p.Asp214=)
NM_000400.4(ERCC2):c.645C>G (p.Pro215=)
NM_000400.4(ERCC2):c.660G>A (p.Leu220=)
NM_000400.4(ERCC2):c.660G>T (p.Leu220=)
NM_000400.4(ERCC2):c.666C>T (p.Ser222=)
NM_000400.4(ERCC2):c.673C>T (p.Leu225=)
NM_000400.4(ERCC2):c.675G>A (p.Leu225=)
NM_000400.4(ERCC2):c.678C>T (p.Ala226=) rs755405968
NM_000400.4(ERCC2):c.690C>A (p.Val230=)
NM_000400.4(ERCC2):c.690C>T (p.Val230=)
NM_000400.4(ERCC2):c.6G>A (p.Lys2=)
NM_000400.4(ERCC2):c.705G>A (p.Glu235=)
NM_000400.4(ERCC2):c.717T>C (p.Ile239=)
NM_000400.4(ERCC2):c.720C>T (p.Asp240=)
NM_000400.4(ERCC2):c.723C>T (p.Asn241=)
NM_000400.4(ERCC2):c.726C>T (p.Val242=)
NM_000400.4(ERCC2):c.72C>T (p.Tyr24=)
NM_000400.4(ERCC2):c.732C>T (p.Ile244=)
NM_000400.4(ERCC2):c.738C>T (p.Ser246=)
NM_000400.4(ERCC2):c.747C>G (p.Val249=)
NM_000400.4(ERCC2):c.756C>G (p.Thr252=)
NM_000400.4(ERCC2):c.756C>T (p.Thr252=)
NM_000400.4(ERCC2):c.759C>T (p.Arg253=)
NM_000400.4(ERCC2):c.762G>A (p.Arg254=)
NM_000400.4(ERCC2):c.768T>A (p.Leu256=)
NM_000400.4(ERCC2):c.772C>A (p.Arg258=)
NM_000400.4(ERCC2):c.783C>A (p.Gly261=)
NM_000400.4(ERCC2):c.78G>A (p.Arg26=)
NM_000400.4(ERCC2):c.795C>T (p.Thr265=)
NM_000400.4(ERCC2):c.796C>T (p.Leu266=)
NM_000400.4(ERCC2):c.804G>A (p.Lys268=)
NM_000400.4(ERCC2):c.807G>A (p.Thr269=)
NM_000400.4(ERCC2):c.819C>A (p.Ile273=)
NM_000400.4(ERCC2):c.819C>T (p.Ile273=)
NM_000400.4(ERCC2):c.831C>T (p.Asp277=)
NM_000400.4(ERCC2):c.834G>A (p.Glu278=)
NM_000400.4(ERCC2):c.837G>A (p.Gln279=)
NM_000400.4(ERCC2):c.844C>A (p.Arg282=)
NM_000400.4(ERCC2):c.846G>C (p.Arg282=)
NM_000400.4(ERCC2):c.846G>T (p.Arg282=)
NM_000400.4(ERCC2):c.849C>G (p.Asp283Glu)
NM_000400.4(ERCC2):c.849C>T (p.Asp283=)
NM_000400.4(ERCC2):c.852G>A (p.Glu284=)
NM_000400.4(ERCC2):c.855C>T (p.Tyr285=)
NM_000400.4(ERCC2):c.862C>T (p.Leu288=)
NM_000400.4(ERCC2):c.867G>A (p.Val289=) rs1162349481
NM_000400.4(ERCC2):c.882G>A (p.Glu294=)
NM_000400.4(ERCC2):c.888C>T (p.Ser296=)
NM_000400.4(ERCC2):c.891C>G (p.Ala297=)
NM_000400.4(ERCC2):c.891C>T (p.Ala297=)
NM_000400.4(ERCC2):c.894C>T (p.Ala298=)
NM_000400.4(ERCC2):c.895C>A (p.Arg299=)
NM_000400.4(ERCC2):c.903G>A (p.Thr301=)
NM_000400.4(ERCC2):c.903G>C (p.Thr301=)
NM_000400.4(ERCC2):c.906C>T (p.Asp302=)
NM_000400.4(ERCC2):c.909C>A (p.Ala303=)
NM_000400.4(ERCC2):c.909C>T (p.Ala303=)
NM_000400.4(ERCC2):c.912C>T (p.His304=)
NM_000400.4(ERCC2):c.913C>T (p.Leu305=)
NM_000400.4(ERCC2):c.918C>A (p.Ala306=)
NM_000400.4(ERCC2):c.921C>T (p.Asn307=)
NM_000400.4(ERCC2):c.924C>T (p.Pro308=)
NM_000400.4(ERCC2):c.930G>C (p.Leu310=) rs1471014609
NM_000400.4(ERCC2):c.930G>T (p.Leu310=)
NM_000400.4(ERCC2):c.933C>A (p.Pro311=)
NM_000400.4(ERCC2):c.933C>G (p.Pro311=)
NM_000400.4(ERCC2):c.933C>T (p.Pro311=)
NM_000400.4(ERCC2):c.93G>A (p.Thr31=)
NM_000400.4(ERCC2):c.93G>C (p.Thr31=)
NM_000400.4(ERCC2):c.942G>C (p.Val314=)
NM_000400.4(ERCC2):c.945G>T (p.Leu315=)
NM_000400.4(ERCC2):c.954A>G (p.Ala318=)
NM_000400.4(ERCC2):c.957G>A (p.Val319=)
NM_000400.4(ERCC2):c.957G>C (p.Val319=)
NM_000400.4(ERCC2):c.960T>G (p.Pro320=)
NM_000400.4(ERCC2):c.966C>G (p.Ser322=)
NM_000400.4(ERCC2):c.966C>T (p.Ser322=)
NM_000400.4(ERCC2):c.969C>A (p.Ile323=)
NM_000400.4(ERCC2):c.96G>A (p.Leu32=)
NM_000400.4(ERCC2):c.972C>T (p.Arg324=)
NM_000400.4(ERCC2):c.978C>G (p.Ala326=) rs746258199
NM_000400.4(ERCC2):c.984T>C (p.His328=)
NM_000400.4(ERCC2):c.987C>T (p.Phe329=)
NM_000400.4(ERCC2):c.990G>C (p.Leu330=)
NM_000400.4(ERCC2):c.993C>G (p.Gly331=)
NM_000400.4(ERCC2):c.993C>T (p.Gly331=)
NM_000400.4(ERCC2):c.996C>T (p.Phe332=)
NM_000400.4(ERCC2):c.997C>T (p.Leu333=)
NM_000400.4(ERCC2):c.99C>T (p.Asp33=)
NM_000400.4(ERCC2):c.9C>A (p.Leu3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.