ClinVar Miner

List of variants in gene ERCC6 studied for Cockayne syndrome type 2

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000124.4(ERCC6):c.*2680A>C rs35471849 0.00511
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_000124.4(ERCC6):c.*3921A>G rs533984667 0.00364
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
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.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000124.4(ERCC6):c.*118A>C rs4253233 0.00201
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044 0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026 0.00191
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.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
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.*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.*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.3804C>T (p.His1268=) rs116032070 0.00042
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.*900C>T rs189979670 0.00026
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.*2237C>T rs192242583 0.00023
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000124.4(ERCC6):c.*977A>G rs765959190 0.00017
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_000124.4(ERCC6):c.*2031A>G rs1050975183 0.00015
NM_000124.4(ERCC6):c.*4208A>G rs182395696 0.00014
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.*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.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457 0.00009
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.379G>A (p.Val127Ile) rs116275562 0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) rs149382642 0.00007
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.2203C>T (p.Arg735Ter) rs121917901 0.00005
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.-107A>G rs886047042 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886 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.*3925A>G rs981190765 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 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.4306G>A (p.Ala1436Thr) rs747941045 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 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.*38A>G rs756639495 0.00001
NM_000124.4(ERCC6):c.*681G>A rs547014227 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.1686-12G>A rs774930802 0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.1993-12T>C rs751115103 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2300G>A (p.Arg767His) rs56397747 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 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.3123A>G (p.Gln1041=) rs563142074 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 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.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.423-9A>C rs775274710 0.00001
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu) rs1218964618 0.00001
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.*1805G>T rs1850494237
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*246T>C rs1850520931
NM_000124.4(ERCC6):c.*2946C>T rs146529081
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.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) rs1851434105
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn) rs1464456889
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1638G>T (p.Leu546Phe)
NM_000124.4(ERCC6):c.1669C>G (p.Arg557Gly)
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1685+5G>A
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) rs768188064
NM_000124.4(ERCC6):c.1815del (p.His605fs)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) rs961060711
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
NM_000124.4(ERCC6):c.1914del (p.Arg637_Tyr638insTer)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) rs1850916835
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
NM_000124.4(ERCC6):c.2336del (p.Phe779fs) rs2132544294
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) rs1850874595
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) rs1850832795
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) rs1850832063
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter) rs1850831525
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) rs1850770605
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) rs1850769140
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) rs1850766086
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) rs1850759141
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter) rs1850757159
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) rs1286402535
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) rs1850754584
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) rs1850753467
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter) rs2228527
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.3670C>A (p.His1224Asn)
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) rs1850747928
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=) rs1379322521
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp) rs370285377
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_000124.4(ERCC6):c.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys) rs1360922012
NM_000124.4(ERCC6):c.439dup (p.Leu147fs)
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys) rs2132631324
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262

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