ClinVar Miner

List of variants in gene ERCC6 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.*2680A>C rs35471849 0.00511
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_000124.4(ERCC6):c.*2602A>G rs41281953 0.00319
NM_000124.4(ERCC6):c.*3280A>G rs146690522 0.00291
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_000124.4(ERCC6):c.*3684A>G rs570822434 0.00147
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988 0.00083
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000124.4(ERCC6):c.*813C>T rs181327678 0.00077
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00063
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_000124.4(ERCC6):c.*1112G>A rs186262133 0.00056
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_000124.4(ERCC6):c.*1933A>G rs748783305 0.00054
NM_000124.4(ERCC6):c.*4019A>G rs569564278 0.00052
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys) rs150277901 0.00051
NM_000124.4(ERCC6):c.*1279T>A rs189942338 0.00048
NM_000124.4(ERCC6):c.886A>G (p.Arg296Gly) rs115643329 0.00046
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg) rs4253228 0.00045
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070 0.00042
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00041
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175 0.00035
NM_000124.4(ERCC6):c.*2460T>C rs566027784 0.00032
NM_000124.4(ERCC6):c.*1780T>C rs188228522 0.00031
NM_000124.4(ERCC6):c.*3720T>C rs183472492 0.00031
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602 0.00031
NM_000124.4(ERCC6):c.1670G>A (p.Arg557His) rs41549213 0.00027
NM_000124.4(ERCC6):c.*900C>T rs189979670 0.00026
NM_000124.4(ERCC6):c.3187G>A (p.Val1063Ile) rs148475034 0.00026
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00025
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_000124.4(ERCC6):c.*2237C>T rs192242583 0.00023
NM_000124.4(ERCC6):c.*977A>G rs765959190 0.00022
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser) rs138758064 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_000124.4(ERCC6):c.4400G>A (p.Arg1467Gln) rs145554525 0.00017
NM_000124.4(ERCC6):c.4063-5T>C rs186482480 0.00016
NM_000124.4(ERCC6):c.*2031A>G rs1050975183 0.00015
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 0.00015
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys) rs145622432 0.00014
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000124.4(ERCC6):c.*2540G>T rs535495750 0.00012
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu) rs114852424 0.00012
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala) rs138822457 0.00010
NM_000124.4(ERCC6):c.2395C>T (p.Leu799Phe) rs181838986 0.00009
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457 0.00009
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser) rs563356062 0.00009
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
NM_000124.4(ERCC6):c.*922C>T rs562204481 0.00007
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473 0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) rs149382642 0.00007
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2077T>A (p.Phe693Ile) rs199921831 0.00006
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.3895C>T (p.Leu1299Phe) rs200516416 0.00006
NM_000124.4(ERCC6):c.530A>G (p.Gln177Arg) rs141372606 0.00006
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000124.4(ERCC6):c.148G>A (p.Val50Met) rs746243560 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2335T>G (p.Phe779Val) rs764456630 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3083A>T (p.Asp1028Val) rs1474441899 0.00004
NM_000124.4(ERCC6):c.3148G>A (p.Val1050Ile) rs139932923 0.00004
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886 0.00004
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr) rs377708438 0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972 0.00004
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg) rs114403790 0.00004
NM_000124.4(ERCC6):c.*1383T>G rs886047023 0.00003
NM_000124.4(ERCC6):c.*3356C>T rs563034452 0.00003
NM_000124.4(ERCC6):c.*388C>A rs886047029 0.00003
NM_000124.4(ERCC6):c.*38A>G rs756639495 0.00003
NM_000124.4(ERCC6):c.*3925A>G rs981190765 0.00003
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 0.00003
NM_000124.4(ERCC6):c.2287-5C>T rs772880581 0.00003
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929 0.00003
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr) rs747941045 0.00003
NM_000124.4(ERCC6):c.4309T>A (p.Phe1437Ile) rs758679804 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000124.4(ERCC6):c.1786A>G (p.Ile596Val) rs1056671646 0.00002
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2230C>T (p.Arg744Trp) rs368188837 0.00002
NM_000124.4(ERCC6):c.2540T>C (p.Leu847Ser) rs761812362 0.00002
NM_000124.4(ERCC6):c.2601G>T (p.Met867Ile) rs761558075 0.00002
NM_000124.4(ERCC6):c.3260G>A (p.Arg1087Gln) rs767788819 0.00002
NM_000124.4(ERCC6):c.3688C>T (p.Arg1230Cys) rs755377100 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.480A>T (p.Gln160His) rs769850417 0.00002
NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser) rs760618206 0.00002
NM_000124.4(ERCC6):c.*2662T>C rs924324836 0.00001
NM_000124.4(ERCC6):c.*3217T>G rs758928784 0.00001
NM_000124.4(ERCC6):c.*3704C>T rs1393093094 0.00001
NM_000124.4(ERCC6):c.*681G>A rs547014227 0.00001
NM_000124.4(ERCC6):c.1102G>C (p.Glu368Gln) rs1177995093 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.143G>A (p.Arg48His) rs780434796 0.00001
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=) rs759447711 0.00001
NM_000124.4(ERCC6):c.1652A>G (p.Tyr551Cys) rs780446851 0.00001
NM_000124.4(ERCC6):c.167C>T (p.Thr56Ile) rs41281957 0.00001
NM_000124.4(ERCC6):c.1686-12G>A rs774930802 0.00001
NM_000124.4(ERCC6):c.1727C>T (p.Thr576Ile) rs1361909458 0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.1955G>A (p.Arg652Gln) rs1365187961 0.00001
NM_000124.4(ERCC6):c.1993-12T>C rs751115103 0.00001
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His) rs769904341 0.00001
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=) rs546407915 0.00001
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2239A>G (p.Lys747Glu) rs1413002384 0.00001
NM_000124.4(ERCC6):c.2293T>C (p.Phe765Leu) rs1157637875 0.00001
NM_000124.4(ERCC6):c.2300G>A (p.Arg767His) rs56397747 0.00001
NM_000124.4(ERCC6):c.2359A>G (p.Arg787Gly) rs948909155 0.00001
NM_000124.4(ERCC6):c.2598+7G>A rs769421755 0.00001
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.304C>G (p.Gln102Glu) rs1339834464 0.00001
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=) rs563142074 0.00001
NM_000124.4(ERCC6):c.3314A>G (p.Asp1105Gly) rs757873730 0.00001
NM_000124.4(ERCC6):c.3335A>T (p.Asn1112Ile) rs1850759565 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168 0.00001
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys) rs367552064 0.00001
NM_000124.4(ERCC6):c.3962C>G (p.Ser1321Cys) rs746330518 0.00001
NM_000124.4(ERCC6):c.410T>C (p.Leu137Pro) rs748403975 0.00001
NM_000124.4(ERCC6):c.4126G>C (p.Asp1376His) rs1255657939 0.00001
NM_000124.4(ERCC6):c.423-9A>C rs775274710 0.00001
NM_000124.4(ERCC6):c.4330C>T (p.Gln1444Ter) rs1338290383 0.00001
NM_000124.4(ERCC6):c.4350dup (p.Leu1451fs) rs1310971069 0.00001
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_000124.4(ERCC6):c.4445G>T (p.Gly1482Val) rs574307052 0.00001
NM_000124.4(ERCC6):c.56A>G (p.Gln19Arg) rs1205705497 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000124.4(ERCC6):c.899C>T (p.Ala300Val) rs373471724 0.00001
NC_000010.10:g.(?_50738746)_(50741010_?)dup
NM_000124.4(ERCC6):c.*1805G>T rs1850494237
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*246T>C rs1850520931
NM_000124.4(ERCC6):c.*2973C>G rs951313840
NM_000124.4(ERCC6):c.*3366G>A rs1850469256
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*4090G>A rs117555054
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*589A>G rs1850515497
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.1046C>T (p.Pro349Leu)
NM_000124.4(ERCC6):c.1060C>A (p.Pro354Thr)
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1121A>T (p.Tyr374Phe)
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.129G>C (p.Glu43Asp)
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1445T>G (p.Leu482Arg)
NM_000124.4(ERCC6):c.1450G>A (p.Asp484Asn)
NM_000124.4(ERCC6):c.1453G>A (p.Asp485Asn)
NM_000124.4(ERCC6):c.1471G>A (p.Ala491Thr) rs2132582150
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1507C>G (p.Leu503Val)
NM_000124.4(ERCC6):c.1518G>C (p.Lys506Asn)
NM_000124.4(ERCC6):c.1527G>A (p.Lys509=)
NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn) rs1464456889
NM_000124.4(ERCC6):c.1540G>C (p.Gly514Arg) rs2132575250
NM_000124.4(ERCC6):c.1541G>T (p.Gly514Val)
NM_000124.4(ERCC6):c.1545T>G (p.Val515=) rs1385035634
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1669C>G (p.Arg557Gly)
NM_000124.4(ERCC6):c.1669C>T (p.Arg557Cys)
NM_000124.4(ERCC6):c.1672G>A (p.Gly558Ser) rs2132575001
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1685+5G>A
NM_000124.4(ERCC6):c.1700G>C (p.Gly567Ala)
NM_000124.4(ERCC6):c.1705A>G (p.Thr569Ala)
NM_000124.4(ERCC6):c.1712T>C (p.Ile571Thr)
NM_000124.4(ERCC6):c.1738C>A (p.Gln580Lys)
NM_000124.4(ERCC6):c.1748A>G (p.Lys583Arg)
NM_000124.4(ERCC6):c.1762T>C (p.Trp588Arg)
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del) rs760919459
NM_000124.4(ERCC6):c.1763G>T (p.Trp588Leu) rs373522295
NM_000124.4(ERCC6):c.1778G>C (p.Arg593Thr)
NM_000124.4(ERCC6):c.1813C>T (p.His605Tyr)
NM_000124.4(ERCC6):c.1814A>G (p.His605Arg) rs2132564883
NM_000124.4(ERCC6):c.1817A>G (p.Lys606Arg) rs1437414291
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.1821+6_1821+7inv
NM_000124.4(ERCC6):c.1840G>A (p.Val614Ile) rs1851018769
NM_000124.4(ERCC6):c.1873T>G (p.Tyr625Asp)
NM_000124.4(ERCC6):c.1881C>T (p.Tyr627=)
NM_000124.4(ERCC6):c.1886G>A (p.Arg629Gln)
NM_000124.4(ERCC6):c.1901A>G (p.Asp634Gly)
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)
NM_000124.4(ERCC6):c.2029C>T (p.Pro677Ser)
NM_000124.4(ERCC6):c.2030C>A (p.Pro677Gln)
NM_000124.4(ERCC6):c.2030C>T (p.Pro677Leu)
NM_000124.4(ERCC6):c.2036A>C (p.Gln679Pro)
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2047C>G (p.Arg683Gly)
NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.2080C>T (p.Pro694Ser)
NM_000124.4(ERCC6):c.2093G>A (p.Gly698Asp)
NM_000124.4(ERCC6):c.2128C>G (p.Pro710Ala)
NM_000124.4(ERCC6):c.2131A>G (p.Ile711Val) rs2132551652
NM_000124.4(ERCC6):c.2179G>T (p.Ala727Ser)
NM_000124.4(ERCC6):c.2191G>A (p.Ala731Thr)
NM_000124.4(ERCC6):c.2191G>T (p.Ala731Ser)
NM_000124.4(ERCC6):c.2203C>G (p.Arg735Gly) rs121917901
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2206G>A (p.Asp736Asn)
NM_000124.4(ERCC6):c.2245G>C (p.Asp749His)
NM_000124.4(ERCC6):c.2261T>C (p.Leu754Pro)
NM_000124.4(ERCC6):c.2286+5G>A
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2297G>T (p.Cys766Phe) rs878853067
NM_000124.4(ERCC6):c.2299C>T (p.Arg767Cys)
NM_000124.4(ERCC6):c.2338G>A (p.Val780Ile)
NM_000124.4(ERCC6):c.2372G>A (p.Gly791Glu) rs2132544234
NM_000124.4(ERCC6):c.2372G>T (p.Gly791Val)
NM_000124.4(ERCC6):c.2382+3C>T
NM_000124.4(ERCC6):c.2392G>A (p.Gly798Arg)
NM_000124.4(ERCC6):c.2399T>C (p.Ile800Thr) rs369864700
NM_000124.4(ERCC6):c.2402C>T (p.Ala801Val)
NM_000124.4(ERCC6):c.2418C>G (p.Cys806Trp) rs375810438
NM_000124.4(ERCC6):c.2438C>T (p.Ser813Phe)
NM_000124.4(ERCC6):c.2444G>T (p.Gly815Val)
NM_000124.4(ERCC6):c.2459A>G (p.Lys820Arg)
NM_000124.4(ERCC6):c.2461G>A (p.Gly821Ser)
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2513C>G (p.Ser838Cys)
NM_000124.4(ERCC6):c.2523G>T (p.Met841Ile)
NM_000124.4(ERCC6):c.2546A>C (p.Lys849Thr)
NM_000124.4(ERCC6):c.2548A>G (p.Ile850Val)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2555A>G (p.His852Arg) rs2132541768
NM_000124.4(ERCC6):c.2561A>T (p.Gln854Leu)
NM_000124.4(ERCC6):c.2563G>A (p.Gly855Ser)
NM_000124.4(ERCC6):c.2563G>C (p.Gly855Arg)
NM_000124.4(ERCC6):c.2570G>A (p.Arg857Gln) rs1850831419
NM_000124.4(ERCC6):c.2606A>G (p.Asp869Gly)
NM_000124.4(ERCC6):c.2617G>T (p.Val873Leu)
NM_000124.4(ERCC6):c.2629G>T (p.Ala877Ser)
NM_000124.4(ERCC6):c.2639A>G (p.Tyr880Cys)
NM_000124.4(ERCC6):c.2645A>C (p.Tyr882Ser)
NM_000124.4(ERCC6):c.2647C>T (p.Leu883Phe)
NM_000124.4(ERCC6):c.2648T>G (p.Leu883Arg) rs2132541065
NM_000124.4(ERCC6):c.2651A>G (p.Lys884Arg)
NM_000124.4(ERCC6):c.2687C>T (p.Pro896Leu)
NM_000124.4(ERCC6):c.2701T>G (p.Tyr901Asp)
NM_000124.4(ERCC6):c.2709+6_2709+7del
NM_000124.4(ERCC6):c.2959C>A (p.Leu987Ile)
NM_000124.4(ERCC6):c.2968C>A (p.Pro990Thr)
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.2980C>T (p.Arg994Trp)
NM_000124.4(ERCC6):c.2981G>A (p.Arg994Gln)
NM_000124.4(ERCC6):c.2990A>C (p.Lys997Thr)
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
NM_000124.4(ERCC6):c.3005A>G (p.Tyr1002Cys)
NM_000124.4(ERCC6):c.3014T>A (p.Phe1005Tyr)
NM_000124.4(ERCC6):c.3045C>A (p.Ser1015Arg)
NM_000124.4(ERCC6):c.3077G>A (p.Gly1026Glu)
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3124C>T (p.Pro1042Ser) rs1347404070
NM_000124.4(ERCC6):c.3147T>A (p.Asp1049Glu) rs1008107416
NM_000124.4(ERCC6):c.3168C>A (p.Phe1056Leu)
NM_000124.4(ERCC6):c.3178A>C (p.Asn1060His)
NM_000124.4(ERCC6):c.3197C>T (p.Ala1066Val)
NM_000124.4(ERCC6):c.3202T>A (p.Ser1068Thr)
NM_000124.4(ERCC6):c.3210A>C (p.Glu1070Asp)
NM_000124.4(ERCC6):c.3214A>G (p.Lys1072Glu) rs2132537563
NM_000124.4(ERCC6):c.3223G>A (p.Ala1075Thr)
NM_000124.4(ERCC6):c.3238G>A (p.Val1080Ile)
NM_000124.4(ERCC6):c.3244G>T (p.Ala1082Ser)
NM_000124.4(ERCC6):c.3274A>G (p.Lys1092Glu)
NM_000124.4(ERCC6):c.3278A>G (p.Asp1093Gly)
NM_000124.4(ERCC6):c.3283C>G (p.Pro1095Ala)
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3288_3289delinsAG (p.His1096_Met1097delinsGlnVal)
NM_000124.4(ERCC6):c.3322G>A (p.Gly1108Arg)
NM_000124.4(ERCC6):c.33A>C (p.Gln11His) rs2132639996
NM_000124.4(ERCC6):c.3408C>T (p.Gly1136=)
NM_000124.4(ERCC6):c.3412A>G (p.Thr1138Ala)
NM_000124.4(ERCC6):c.3418A>G (p.Met1140Val)
NM_000124.4(ERCC6):c.3430G>A (p.Asp1144Asn)
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg) rs1435512927
NM_000124.4(ERCC6):c.3436A>G (p.Ser1146Gly)
NM_000124.4(ERCC6):c.3442G>A (p.Asp1148Asn)
NM_000124.4(ERCC6):c.3479C>T (p.Pro1160Leu)
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3491A>G (p.Gln1164Arg)
NM_000124.4(ERCC6):c.3493A>G (p.Thr1165Ala)
NM_000124.4(ERCC6):c.3500C>A (p.Ala1167Asp)
NM_000124.4(ERCC6):c.3526A>T (p.Asn1176Tyr)
NM_000124.4(ERCC6):c.3536A>G (p.Tyr1179Cys) rs536757172
NM_000124.4(ERCC6):c.3541C>T (p.His1181Tyr)
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3586C>G (p.Leu1196Val)
NM_000124.4(ERCC6):c.3611A>C (p.Gln1204Pro)
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.364C>A (p.Arg122Ser) rs374014916
NM_000124.4(ERCC6):c.3695A>G (p.Gln1232Arg)
NM_000124.4(ERCC6):c.3700C>G (p.Gln1234Glu)
NM_000124.4(ERCC6):c.3710A>T (p.Glu1237Val)
NM_000124.4(ERCC6):c.3714C>G (p.Asn1238Lys)
NM_000124.4(ERCC6):c.3719G>C (p.Ser1240Thr)
NM_000124.4(ERCC6):c.3721G>A (p.Glu1241Lys)
NM_000124.4(ERCC6):c.3729G>T (p.Lys1243Asn)
NM_000124.4(ERCC6):c.3758A>G (p.Glu1253Gly)
NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn) rs1850747769
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3775T>A (p.Ser1259Thr)
NM_000124.4(ERCC6):c.3779-16_3779-15inv
NM_000124.4(ERCC6):c.3782G>A (p.Gly1261Asp)
NM_000124.4(ERCC6):c.3791G>C (p.Ser1264Thr)
NM_000124.4(ERCC6):c.3811A>G (p.Ile1271Val)
NM_000124.4(ERCC6):c.3821G>T (p.Gly1274Val)
NM_000124.4(ERCC6):c.3844G>A (p.Val1282Met)
NM_000124.4(ERCC6):c.3850del (p.Ala1284fs) rs1564725879
NM_000124.4(ERCC6):c.3886G>T (p.Ala1296Ser)
NM_000124.4(ERCC6):c.389A>G (p.Glu130Gly)
NM_000124.4(ERCC6):c.3902G>A (p.Arg1301His)
NM_000124.4(ERCC6):c.3905A>G (p.Gln1302Arg)
NM_000124.4(ERCC6):c.3907C>T (p.Arg1303Trp)
NM_000124.4(ERCC6):c.3908G>T (p.Arg1303Leu)
NM_000124.4(ERCC6):c.390G>T (p.Glu130Asp)
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3944C>T (p.Thr1315Ile) rs2132526499
NM_000124.4(ERCC6):c.3947G>T (p.Gly1316Val)
NM_000124.4(ERCC6):c.3965G>A (p.Gly1322Asp) rs4253219
NM_000124.4(ERCC6):c.3986G>T (p.Ser1329Ile)
NM_000124.4(ERCC6):c.4007A>G (p.Asn1336Ser)
NM_000124.4(ERCC6):c.4025A>C (p.Gln1342Pro)
NM_000124.4(ERCC6):c.4028A>G (p.His1343Arg)
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=) rs1379322521
NM_000124.4(ERCC6):c.4062+10A>G
NM_000124.4(ERCC6):c.4063-10_4063-8del
NM_000124.4(ERCC6):c.4064A>T (p.Asp1355Val)
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp) rs370285377
NM_000124.4(ERCC6):c.4096G>A (p.Val1366Ile) rs745758957
NM_000124.4(ERCC6):c.4120G>C (p.Ala1374Pro)
NM_000124.4(ERCC6):c.4129G>A (p.Ala1377Thr) rs781538914
NM_000124.4(ERCC6):c.4150C>T (p.Leu1384Phe)
NM_000124.4(ERCC6):c.4153G>A (p.Ala1385Thr)
NM_000124.4(ERCC6):c.4154C>A (p.Ala1385Asp)
NM_000124.4(ERCC6):c.4196T>A (p.Leu1399Gln)
NM_000124.4(ERCC6):c.4208A>T (p.Glu1403Val)
NM_000124.4(ERCC6):c.4220G>A (p.Ser1407Asn)
NM_000124.4(ERCC6):c.4221T>G (p.Ser1407Arg)
NM_000124.4(ERCC6):c.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.4232A>G (p.His1411Arg)
NM_000124.4(ERCC6):c.4244C>G (p.Ala1415Gly) rs1850529668
NM_000124.4(ERCC6):c.4261A>G (p.Thr1421Ala)
NM_000124.4(ERCC6):c.4272C>G (p.His1424Gln)
NM_000124.4(ERCC6):c.4273G>A (p.Asp1425Asn)
NM_000124.4(ERCC6):c.4273G>T (p.Asp1425Tyr)
NM_000124.4(ERCC6):c.4292T>C (p.Met1431Thr)
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys) rs1360922012
NM_000124.4(ERCC6):c.4297A>C (p.Asn1433His) rs2132523657
NM_000124.4(ERCC6):c.4298A>G (p.Asn1433Ser)
NM_000124.4(ERCC6):c.4339A>G (p.Thr1447Ala)
NM_000124.4(ERCC6):c.433A>G (p.Thr145Ala)
NM_000124.4(ERCC6):c.4351C>G (p.Leu1451Val)
NM_000124.4(ERCC6):c.4355A>G (p.Gln1452Arg) rs756484672
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4427T>C (p.Phe1476Ser)
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.4453A>G (p.Ile1485Val) rs772426762
NM_000124.4(ERCC6):c.4460A>C (p.Lys1487Thr) rs2132523419
NM_000124.4(ERCC6):c.448A>G (p.Ile150Val)
NM_000124.4(ERCC6):c.452A>G (p.Asn151Ser)
NM_000124.4(ERCC6):c.460A>G (p.Ile154Val)
NM_000124.4(ERCC6):c.475C>T (p.Pro159Ser)
NM_000124.4(ERCC6):c.527G>A (p.Arg176Gln) rs1442811418
NM_000124.4(ERCC6):c.583C>T (p.Leu195Phe)
NM_000124.4(ERCC6):c.594C>G (p.Ile198Met)
NM_000124.4(ERCC6):c.605C>G (p.Ala202Gly)
NM_000124.4(ERCC6):c.644A>C (p.Glu215Ala)
NM_000124.4(ERCC6):c.649G>A (p.Ala217Thr)
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys) rs2132631324
NM_000124.4(ERCC6):c.653-6T>C
NM_000124.4(ERCC6):c.667A>G (p.Ser223Gly)
NM_000124.4(ERCC6):c.67G>A (p.Val23Ile) rs1196976745
NM_000124.4(ERCC6):c.692T>C (p.Val231Ala)
NM_000124.4(ERCC6):c.697G>A (p.Glu233Lys) rs965743464
NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser) rs1837269364
NM_000124.4(ERCC6):c.766C>A (p.Gln256Lys)
NM_000124.4(ERCC6):c.779C>T (p.Pro260Leu)
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
NM_000124.4(ERCC6):c.809_810delinsAT (p.Gly270Asp) rs1564442704
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000124.4(ERCC6):c.811T>C (p.Phe271Leu)
NM_000124.4(ERCC6):c.85A>G (p.Met29Val) rs2132639823
NM_000124.4(ERCC6):c.868T>G (p.Cys290Gly)
NM_000124.4(ERCC6):c.869G>T (p.Cys290Phe)
NM_000124.4(ERCC6):c.895C>T (p.Pro299Ser)
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.974A>C (p.Glu325Ala)
NM_000124.4(ERCC6):c.980G>A (p.Arg327His)

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