ClinVar Miner

List of variants in gene ERCC4 studied for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
NC_000016.9:g.(?_14014013)_(14042214_?)del
NC_000016.9:g.(?_14021879)_(14022098_?)del
NM_005236.2(ERCC4):c.*11C>T rs9929524
NM_005236.2(ERCC4):c.*1251T>C rs532485638
NM_005236.2(ERCC4):c.*1421G>T rs76447723
NM_005236.2(ERCC4):c.*1463C>T rs886051671
NM_005236.2(ERCC4):c.*150T>C rs886051667
NM_005236.2(ERCC4):c.*1708G>A rs528435639
NM_005236.2(ERCC4):c.*1774C>T rs772694607
NM_005236.2(ERCC4):c.*1796T>C rs565142105
NM_005236.2(ERCC4):c.*1858C>T rs775803860
NM_005236.2(ERCC4):c.*1880C>T rs112776898
NM_005236.2(ERCC4):c.*1897A>C rs886051672
NM_005236.2(ERCC4):c.*192T>C rs536552167
NM_005236.2(ERCC4):c.*2139A>C rs140019040
NM_005236.2(ERCC4):c.*2174A>G rs9925509
NM_005236.2(ERCC4):c.*2180G>A rs886051673
NM_005236.2(ERCC4):c.*2240A>G rs886051674
NM_005236.2(ERCC4):c.*2255G>A rs886051675
NM_005236.2(ERCC4):c.*2423A>G rs886051676
NM_005236.2(ERCC4):c.*248G>A rs541600279
NM_005236.2(ERCC4):c.*248G>T rs541600279
NM_005236.2(ERCC4):c.*2513C>A rs11075223
NM_005236.2(ERCC4):c.*2577C>A rs56012340
NM_005236.2(ERCC4):c.*2577delC rs61422086
NM_005236.2(ERCC4):c.*2588A>G rs188840787
NM_005236.2(ERCC4):c.*2659T>C rs886051677
NM_005236.2(ERCC4):c.*2759C>T rs776910274
NM_005236.2(ERCC4):c.*2872A>C rs886051678
NM_005236.2(ERCC4):c.*2879A>C rs181178937
NM_005236.2(ERCC4):c.*3032G>T rs4781562
NM_005236.2(ERCC4):c.*3044A>C rs886051679
NM_005236.2(ERCC4):c.*3071T>C rs886051680
NM_005236.2(ERCC4):c.*3125A>G rs115183774
NM_005236.2(ERCC4):c.*3130T>C rs189232031
NM_005236.2(ERCC4):c.*3195G>A rs4781563
NM_005236.2(ERCC4):c.*3200A>G rs8056393
NM_005236.2(ERCC4):c.*3327A>G rs535056033
NM_005236.2(ERCC4):c.*3439G>A rs192113185
NM_005236.2(ERCC4):c.*3493T>C rs79560972
NM_005236.2(ERCC4):c.*3537C>T rs113073720
NM_005236.2(ERCC4):c.*3542T>C rs886051681
NM_005236.2(ERCC4):c.*3753C>G rs886051682
NM_005236.2(ERCC4):c.*3801C>T rs113403633
NM_005236.2(ERCC4):c.*3818G>A rs886051683
NM_005236.2(ERCC4):c.*384A>G rs886051668
NM_005236.2(ERCC4):c.*3913G>C rs112259692
NM_005236.2(ERCC4):c.*3921A>C rs773246781
NM_005236.2(ERCC4):c.*3953del rs397778750
NM_005236.2(ERCC4):c.*484G>T rs3743538
NM_005236.2(ERCC4):c.*539G>A rs565318315
NM_005236.2(ERCC4):c.*558A>C rs376791839
NM_005236.2(ERCC4):c.*674G>C rs1651204
NM_005236.2(ERCC4):c.*675G>T rs1651203
NM_005236.2(ERCC4):c.*726G>C rs2276464
NM_005236.2(ERCC4):c.*745A>G rs541739848
NM_005236.2(ERCC4):c.*810G>A rs2276465
NM_005236.2(ERCC4):c.*859A>C rs886051669
NM_005236.2(ERCC4):c.*875A>G rs886051670
NM_005236.2(ERCC4):c.*947T>C rs117293226
NM_005236.2(ERCC4):c.*971C>G rs2276466
NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)
NM_005236.2(ERCC4):c.105C>T (p.Cys35=) rs762885804
NM_005236.2(ERCC4):c.1102+13G>T rs199772721
NM_005236.2(ERCC4):c.1112A>G (p.Lys371Arg) rs886051662
NM_005236.2(ERCC4):c.1123C>T (p.Leu375=) rs376695854
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) rs752193295
NM_005236.2(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159
NM_005236.2(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067
NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) rs767408205
NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) rs3136151
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1432G>A (p.Ala478Thr) rs886051663
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457
NM_005236.2(ERCC4):c.1647A>C (p.Glu549Asp) rs886051665
NM_005236.2(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068
NM_005236.2(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246
NM_005236.2(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.207+11G>A rs762521
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) rs373906926
NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)
NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)
NM_005236.2(ERCC4):c.2199C>T (p.Ile733=) rs372425414
NM_005236.2(ERCC4):c.2266G>A (p.Val756Met) rs201501958
NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) rs139406689
NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)
NM_005236.2(ERCC4):c.2300_2301TC[2] (p.Thr770fs) rs869025184
NM_005236.2(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819
NM_005236.2(ERCC4):c.2505T>C (p.Ser835=) rs1799801
NM_005236.2(ERCC4):c.2519A>C (p.Glu840Ala) rs761699907
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.257G>A (p.Arg86His)
NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) rs1211543560
NM_005236.2(ERCC4):c.2603A>C (p.His868Pro)
NM_005236.2(ERCC4):c.2603A>G (p.His868Arg)
NM_005236.2(ERCC4):c.260G>A (p.Arg87His) rs371487368
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.275T>G (p.Ile92Ser) rs556330628
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.2(ERCC4):c.41C>G (p.Pro14Arg) rs754622238
NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) rs754622238
NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.2(ERCC4):c.532G>T (p.Val178Leu) rs149927607
NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu) rs748499820
NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr)
NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) rs397509403
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084
NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)
NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)
NM_005236.2(ERCC4):c.79C>T (p.Leu27Phe) rs587778282
NM_005236.2(ERCC4):c.840G>A (p.Lys280=) rs886051659
NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln) rs202243691
NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys)
NM_005236.2(ERCC4):c.891T>C (p.Tyr297=) rs886051660
NM_005236.2(ERCC4):c.935C>G (p.Ser312Cys) rs886051661
NM_005236.2(ERCC4):c.974-6T>C rs201181735
NM_005236.2(ERCC4):c.974-7G>A rs254942
NM_005236.2(ERCC4):c.974-7_974-6invGT

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