ClinVar Miner

List of variants in gene ERCC6 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
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.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.*1327G>A rs117289374 0.01454
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.3922G>C (p.Val1308Leu) rs2229761 0.00814
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.*1981dup rs557832376 0.00515
NM_000124.4(ERCC6):c.*2680A>C rs35471849 0.00511
NM_000124.4(ERCC6):c.*2155T>C rs114183603 0.00503
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.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.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.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.*1279T>A rs189942338 0.00048
NM_000124.4(ERCC6):c.*1314G>A rs542053472 0.00043
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070 0.00042
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 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.*900C>T rs189979670 0.00026
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 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.*977A>G rs765959190 0.00022
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
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.*2031A>G rs1050975183 0.00015
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 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.2365C>G (p.Leu789Val) rs139913322 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.2047C>T (p.Arg683Ter) rs121917904 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.*38A>G rs756639495 0.00003
NM_000124.4(ERCC6):c.*3925A>G rs981190765 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.4306G>A (p.Ala1436Thr) rs747941045 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
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.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.2022T>A (p.Ser674=) rs544471829 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.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.423-9A>C rs775274710 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.814G>A (p.Glu272Lys) rs768589918 0.00001
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.*2337A>C rs557944846
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.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3850del (p.Ala1284fs) rs1564725879
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.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys) rs1360922012
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094

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