ClinVar Miner

List of variants in gene ERCC6 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1670G>A (p.Arg557His) rs41549213 0.00027
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00025
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.2081C>T (p.Pro694Leu) rs114852424 0.00012
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.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.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.148G>A (p.Val50Met) rs746243560 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3148G>A (p.Val1050Ile) rs139932923 0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972 0.00004
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 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.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.480A>T (p.Gln160His) rs769850417 0.00002
NM_000124.4(ERCC6):c.1102G>C (p.Glu368Gln) rs1177995093 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.1727C>T (p.Thr576Ile) rs1361909458 0.00001
NM_000124.4(ERCC6):c.1955G>A (p.Arg652Gln) rs1365187961 0.00001
NM_000124.4(ERCC6):c.2239A>G (p.Lys747Glu) rs1413002384 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.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.3335A>T (p.Asn1112Ile) rs1850759565 0.00001
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys) rs367552064 0.00001
NM_000124.4(ERCC6):c.410T>C (p.Leu137Pro) rs748403975 0.00001
NM_000124.4(ERCC6):c.4330C>T (p.Gln1444Ter) rs1338290383 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.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.1046C>T (p.Pro349Leu)
NM_000124.4(ERCC6):c.1060C>A (p.Pro354Thr)
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.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.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.1669C>G (p.Arg557Gly)
NM_000124.4(ERCC6):c.1672G>A (p.Gly558Ser) rs2132575001
NM_000124.4(ERCC6):c.1685+5G>A
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.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>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.2054T>C (p.Leu685Pro)
NM_000124.4(ERCC6):c.2080C>T (p.Pro694Ser)
NM_000124.4(ERCC6):c.2128C>G (p.Pro710Ala)
NM_000124.4(ERCC6):c.2131A>G (p.Ile711Val) rs2132551652
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.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.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.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.2513C>G (p.Ser838Cys)
NM_000124.4(ERCC6):c.2546A>C (p.Lys849Thr)
NM_000124.4(ERCC6):c.2548A>G (p.Ile850Val)
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.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.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.3005A>G (p.Tyr1002Cys)
NM_000124.4(ERCC6):c.3045C>A (p.Ser1015Arg)
NM_000124.4(ERCC6):c.3077G>A (p.Gly1026Glu)
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3147T>A (p.Asp1049Glu) rs1008107416
NM_000124.4(ERCC6):c.3168C>A (p.Phe1056Leu)
NM_000124.4(ERCC6):c.3197C>T (p.Ala1066Val)
NM_000124.4(ERCC6):c.3214A>G (p.Lys1072Glu) rs2132537563
NM_000124.4(ERCC6):c.3223G>A (p.Ala1075Thr)
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.3288_3289delinsAG (p.His1096_Met1097delinsGlnVal)
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.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.3493A>G (p.Thr1165Ala)
NM_000124.4(ERCC6):c.3500C>A (p.Ala1167Asp)
NM_000124.4(ERCC6):c.3536A>G (p.Tyr1179Cys) rs536757172
NM_000124.4(ERCC6):c.3541C>T (p.His1181Tyr)
NM_000124.4(ERCC6):c.3586C>G (p.Leu1196Val)
NM_000124.4(ERCC6):c.3611A>C (p.Gln1204Pro)
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.3775T>A (p.Ser1259Thr)
NM_000124.4(ERCC6):c.3779-16_3779-15inv
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.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.3944C>T (p.Thr1315Ile) rs2132526499
NM_000124.4(ERCC6):c.3965G>A (p.Gly1322Asp) rs4253219
NM_000124.4(ERCC6):c.3986G>T (p.Ser1329Ile)
NM_000124.4(ERCC6):c.4028A>G (p.His1343Arg)
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.4067G>A (p.Gly1356Asp) rs370285377
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.4232A>G (p.His1411Arg)
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.4292T>C (p.Met1431Thr)
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.4427T>C (p.Phe1476Ser)
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.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.697G>A (p.Glu233Lys) rs965743464
NM_000124.4(ERCC6):c.725C>G (p.Thr242Ser) rs1837269364
NM_000124.4(ERCC6):c.779C>T (p.Pro260Leu)
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.974A>C (p.Glu325Ala)

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