ClinVar Miner

List of variants in gene ERCC2 studied for DNA repair disease

Included ClinVar conditions (126):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_000400.4(ERCC2):c.477+9A>C rs1799785 0.00851
NM_000400.4(ERCC2):c.2190+12G>A rs3916881 0.00366
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.*70C>T rs3916889 0.00129
NM_000400.4(ERCC2):c.1119-85G>A rs148028467 0.00129
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.1737C>T (p.Val579=) rs3916876 0.00096
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.1377+8C>T rs370862494 0.00044
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.679C>T (p.Arg227Cys) rs137910235 0.00036
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.462C>G (p.His154Gln) rs139263710 0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) rs116544270 0.00027
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.2190+11C>T rs374737560 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.2083C>T (p.Arg695Cys) rs201392911 0.00014
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 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.1891C>T (p.Arg631Cys) rs144511865 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 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.552G>C (p.Gly184=) rs769750286 0.00010
NM_000400.4(ERCC2):c.1238-1192G>A rs180850149 0.00009
NM_000400.4(ERCC2):c.1903-11C>T rs370777762 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000400.4(ERCC2):c.691G>A (p.Val231Met) rs200895828 0.00008
NM_000400.4(ERCC2):c.873G>A (p.Gly291=) rs552090174 0.00008
NM_000400.4(ERCC2):c.949+9C>T rs529824119 0.00008
NM_000400.4(ERCC2):c.2260G>C (p.Glu754Gln) rs200022901 0.00007
NM_000400.4(ERCC2):c.373C>T (p.Arg125Cys) rs372425466 0.00007
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00007
NM_000400.4(ERCC2):c.*31G>A rs886054494 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.184-16C>T rs756934153 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000400.4(ERCC2):c.491A>G (p.His164Arg) rs769656890 0.00006
NM_000400.4(ERCC2):c.740T>C (p.Met247Thr) rs372176415 0.00006
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met) rs141808167 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 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.1644C>T (p.Thr548=) rs375824454 0.00003
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) rs372960848 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 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.6G>C (p.Lys2Asn) rs200443634 0.00003
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) rs199643821 0.00002
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.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.1726G>A (p.Glu576Lys) rs201165309 0.00002
NM_000400.4(ERCC2):c.1758+1G>A rs760834687 0.00002
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys) rs190678702 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.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000400.4(ERCC2):c.*78C>A rs544163707 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys) rs974354644 0.00001
NM_000400.4(ERCC2):c.1237+5G>A rs761017664 0.00001
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.1343T>C (p.Phe448Ser) rs41559922 0.00001
NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val) rs754585006 0.00001
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.1419C>A (p.Phe473Leu) rs1359215642 0.00001
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys) rs199738290 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.1666-4C>T rs761821592 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 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.1843G>A (p.Gly615Arg) rs1309347920 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.1963G>T (p.Asp655Tyr) rs1411740455 0.00001
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His) rs762141272 0.00001
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) rs752510317 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022 0.00001
NM_000400.4(ERCC2):c.2142C>G (p.Val714=) rs546902024 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.2191-3C>T rs748611039 0.00001
NM_000400.4(ERCC2):c.2231T>C (p.Leu744Pro) rs201370106 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.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_000400.4(ERCC2):c.348T>C (p.Cys116=) rs769231981 0.00001
NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter) rs377532898 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_000400.4(ERCC2):c.816-2A>G rs746795177 0.00001
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met) rs199863965 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.*68G>A rs565650029
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1017_1018insTC (p.Val340fs)
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
NM_000400.4(ERCC2):c.106-5_142del
NM_000400.4(ERCC2):c.1118+4C>G rs762719901
NM_000400.4(ERCC2):c.1118+4C>T rs762719901
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)
NM_000400.4(ERCC2):c.1187dup (p.Leu397fs)
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
NM_000400.4(ERCC2):c.1237+5G>C rs761017664
NM_000400.4(ERCC2):c.1238-1199T>C
NM_000400.4(ERCC2):c.1238-1G>C
NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser) rs577723968
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
NM_000400.4(ERCC2):c.1307+14C>G rs368946956
NM_000400.4(ERCC2):c.1307+1G>A
NM_000400.4(ERCC2):c.1347_1377+7del
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
NM_000400.4(ERCC2):c.1377+1dup
NM_000400.4(ERCC2):c.1378-1G>T
NM_000400.4(ERCC2):c.1378-1_1380del
NM_000400.4(ERCC2):c.1378-2A>C
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=) rs886054497
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) rs1972045362
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.4(ERCC2):c.1479+2T>C
NM_000400.4(ERCC2):c.147A>G (p.Thr49=) rs147826890
NM_000400.4(ERCC2):c.1480-1G>C
NM_000400.4(ERCC2):c.1480-2A>G
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.1543+2_1543+33inv
NM_000400.4(ERCC2):c.1544-1G>T
NM_000400.4(ERCC2):c.1544-7_1552del
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1627C>T (p.Gln543Ter)
NM_000400.4(ERCC2):c.1649C>T (p.Ala550Val) rs886054496
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
NM_000400.4(ERCC2):c.1666-1G>A
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter) rs2123229548
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) rs2123229159
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
NM_000400.4(ERCC2):c.1759-2A>C
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1805G>A (p.Gly602Asp)
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
NM_000400.4(ERCC2):c.1827del (p.Phe610fs)
NM_000400.4(ERCC2):c.183+4A>G rs1972522411
NM_000400.4(ERCC2):c.1832-1G>T
NM_000400.4(ERCC2):c.1832-2A>C
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.184-1G>T rs1568546120
NM_000400.4(ERCC2):c.184-5G>C rs560956342
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.1854CAT[1] (p.Ile619del)
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.1888_1889del (p.Ser630fs)
NM_000400.4(ERCC2):c.1902+2T>C
NM_000400.4(ERCC2):c.1912G>T (p.Glu638Ter)
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
NM_000400.4(ERCC2):c.1953_1956del (p.Phe651fs)
NM_000400.4(ERCC2):c.1959del (p.Phe654fs)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) rs121913021
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln) rs1971845337
NM_000400.4(ERCC2):c.1999_2000delinsA (p.Ala667fs)
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) rs754967981
NM_000400.4(ERCC2):c.2017G>A (p.Asp673Asn) rs2123223978
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
NM_000400.4(ERCC2):c.2046+1G>T rs774768228
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2047-2A>C
NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu) rs1260724831
NM_000400.4(ERCC2):c.2066A>T (p.Lys689Met)
NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs)
NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.4(ERCC2):c.2094G>A (p.Gln698=) rs886054495
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
NM_000400.4(ERCC2):c.2156_2159dup (p.Phe720fs)
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.4(ERCC2):c.2186dup (p.His729fs)
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) rs759412116
NM_000400.4(ERCC2):c.2190+1G>T
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.2191-1G>A
NM_000400.4(ERCC2):c.2191-2A>G
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe) rs1971782991
NM_000400.4(ERCC2):c.229G>A (p.Val77Met) rs866646197
NM_000400.4(ERCC2):c.256G>T (p.Glu86Ter)
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.4(ERCC2):c.308C>T (p.Pro103Leu) rs142462393
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys) rs748033766
NM_000400.4(ERCC2):c.361-1G>A
NM_000400.4(ERCC2):c.381del (p.Lys128fs)
NM_000400.4(ERCC2):c.390_391insT (p.Asp131Ter)
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
NM_000400.4(ERCC2):c.452_461del (p.Ser151fs) rs1568543189
NM_000400.4(ERCC2):c.478-2A>G
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000400.4(ERCC2):c.5+6A>C rs751637822
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) rs146137795
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)
NM_000400.4(ERCC2):c.572C>T (p.Pro191Leu) rs886054499
NM_000400.4(ERCC2):c.586C>T (p.Arg196Ter)
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp) rs1972354891
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) rs753696173
NM_000400.4(ERCC2):c.739A>G (p.Met247Val) rs1972343102
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.4(ERCC2):c.778C>T (p.Gln260Ter)
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
NM_000400.4(ERCC2):c.815+1G>A
NM_000400.4(ERCC2):c.851del (p.Glu284fs) rs2123288444
NM_000400.4(ERCC2):c.852del (p.Glu284fs)
NM_000400.4(ERCC2):c.895C>T (p.Arg299Trp) rs760337216
NM_000400.4(ERCC2):c.902C>A (p.Thr301Lys) rs199863965
NM_000400.4(ERCC2):c.930G>C (p.Leu310=) rs1471014609
NM_000400.4(ERCC2):c.948_949+2delinsCCC
NM_000400.4(ERCC2):c.949+3G>T rs997825199
NM_000400.4(ERCC2):c.949+5G>A rs899469885
NM_000400.4(ERCC2):c.950-13C>A rs886054498
NM_000400.4(ERCC2):c.950-3_950-2del
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)
NM_000400.4(ERCC2):c.978C>G (p.Ala326=) rs746258199
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]

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