ClinVar Miner

List of variants in gene ERCC4 reported as likely benign for Cockayne syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00030
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00020
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00020
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00013
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_005236.3(ERCC4):c.389-9C>A rs369626998 0.00011
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00011
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644 0.00010
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_005236.3(ERCC4):c.714G>A (p.Lys238=) rs780166871 0.00008
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) rs758451676 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.327G>A (p.Ala109=) rs377085353 0.00007
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) rs200818432 0.00006
NM_005236.3(ERCC4):c.1102+20C>T rs555322451 0.00005
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00005
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00005
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=) rs770255135 0.00004
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=) rs757316495 0.00004
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905 0.00004
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) rs148003381 0.00004
NM_005236.3(ERCC4):c.1214-8A>G rs572244227 0.00003
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=) rs760367072 0.00003
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=) rs367595904 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=) rs1392371174 0.00003
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=) rs556423345 0.00003
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=) rs1420641422 0.00002
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) rs769817145 0.00002
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=) rs553999029 0.00002
NM_005236.3(ERCC4):c.207+13T>A rs759023704 0.00002
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.2604C>T (p.His868=) rs370809250 0.00002
NM_005236.3(ERCC4):c.2607C>T (p.His869=) rs769736716 0.00002
NM_005236.3(ERCC4):c.355T>C (p.Leu119=) rs565715127 0.00002
NM_005236.3(ERCC4):c.711A>G (p.Leu237=) rs1322245038 0.00002
NM_005236.3(ERCC4):c.871T>C (p.Leu291=) rs1334727752 0.00002
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00002
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=) rs1162384254 0.00001
NM_005236.3(ERCC4):c.1102+7T>A rs766826151 0.00001
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=) rs760060914 0.00001
NM_005236.3(ERCC4):c.1214-19T>C rs747124669 0.00001
NM_005236.3(ERCC4):c.1214-4T>G rs2032257283 0.00001
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558 0.00001
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598 0.00001
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=) rs954215121 0.00001
NM_005236.3(ERCC4):c.1905-7C>G rs1459073174 0.00001
NM_005236.3(ERCC4):c.1971A>G (p.Val657=) rs993218238 0.00001
NM_005236.3(ERCC4):c.207+19G>T rs2031947945 0.00001
NM_005236.3(ERCC4):c.208-6A>G rs1596617926 0.00001
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=) rs769731155 0.00001
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=) rs1293899276 0.00001
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) rs1477890575 0.00001
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=) rs555317161 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.2421T>C (p.His807=) rs1387272253 0.00001
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) rs1295720869 0.00001
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=) rs373510515 0.00001
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=) rs750391635 0.00001
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=) rs538267970 0.00001
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=) rs1457796184 0.00001
NM_005236.3(ERCC4):c.336G>A (p.Arg112=) rs1246174701 0.00001
NM_005236.3(ERCC4):c.363T>C (p.Asp121=) rs555020322 0.00001
NM_005236.3(ERCC4):c.388+15T>C rs1038044252 0.00001
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=) rs2032075826 0.00001
NM_005236.3(ERCC4):c.426T>A (p.Ser142=) rs147455220 0.00001
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) rs765599689 0.00001
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) rs113129434 0.00001
NM_005236.3(ERCC4):c.585-18A>C rs769983967 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 0.00001
NM_005236.3(ERCC4):c.793-18A>G rs2543173980 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.846A>G (p.Lys282=) rs200536315 0.00001
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193 0.00001
NM_005236.3(ERCC4):c.974-17T>C rs2032183635 0.00001
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) rs1162384254
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=) rs745796159
NM_005236.3(ERCC4):c.1068A>G (p.Lys356=)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=) rs768464180
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=) rs2543175925
NM_005236.3(ERCC4):c.1102+14T>C rs1035221570
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=) rs749724323
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=) rs2543178563
NM_005236.3(ERCC4):c.1191G>A (p.Glu397=)
NM_005236.3(ERCC4):c.1213+18G>A
NM_005236.3(ERCC4):c.1213+8A>G rs896172499
NM_005236.3(ERCC4):c.1214-10C>A rs768785658
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) rs2141606819
NM_005236.3(ERCC4):c.1281A>G (p.Gly427=)
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=) rs2141606959
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=) rs760701586
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=) rs2543180425
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=) rs41557814
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=) rs2543180826
NM_005236.3(ERCC4):c.1581A>G (p.Glu527=)
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=) rs2543181196
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=) rs769817145
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=) rs1217460973
NM_005236.3(ERCC4):c.1668G>A (p.Pro556=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1726A>C (p.Arg576=)
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=) rs1335536306
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=) rs1443100817
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1811+16T>C rs2543181906
NM_005236.3(ERCC4):c.1811+9T>A rs1235957230
NM_005236.3(ERCC4):c.1811+9T>G rs1235957230
NM_005236.3(ERCC4):c.1812-17T>C rs1399858595
NM_005236.3(ERCC4):c.1812-6A>G rs1596629020
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.3(ERCC4):c.1904+7C>T rs369428355
NM_005236.3(ERCC4):c.1905-20G>A
NM_005236.3(ERCC4):c.1905-20G>C rs780224931
NM_005236.3(ERCC4):c.1905-4A>G rs2543191119
NM_005236.3(ERCC4):c.1959C>T (p.Asn653=)
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=) rs373237850
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
NM_005236.3(ERCC4):c.2017+19del rs2032486702
NM_005236.3(ERCC4):c.2018-19A>T rs1380613987
NM_005236.3(ERCC4):c.2018-20T>C
NM_005236.3(ERCC4):c.2055T>G (p.Val685=)
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G rs1470696911
NM_005236.3(ERCC4):c.208-19C>G rs781373518
NM_005236.3(ERCC4):c.208-7G>T rs2543164010
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=) rs2020959
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=) rs746273815
NM_005236.3(ERCC4):c.2208A>G (p.Leu736=)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.225G>A (p.Gln75=)
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) rs765321722
NM_005236.3(ERCC4):c.2316A>G (p.Arg772=)
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=) rs1190414966
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=) rs111613748
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=) rs2543196149
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.2424A>G (p.Ala808=) rs1269027695
NM_005236.3(ERCC4):c.2433G>A (p.Glu811=)
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) rs1031792719
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=) rs1417783312
NM_005236.3(ERCC4):c.2574G>A (p.Val858=) rs753126294
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=) rs759042927
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=) rs2141621342
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=) rs2543196952
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=) rs2543197087
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=) rs2543197100
NM_005236.3(ERCC4):c.2706C>T (p.His902=) rs2543197119
NM_005236.3(ERCC4):c.2724C>G (p.Val908=) rs3136225
NM_005236.3(ERCC4):c.294T>C (p.Tyr98=)
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=) rs2141940032
NM_005236.3(ERCC4):c.306A>G (p.Thr102=) rs764943215
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.381A>G (p.Leu127=) rs2031990907
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+18T>C
NM_005236.3(ERCC4):c.388+20_388+25del rs373361309
NM_005236.3(ERCC4):c.389-5C>A rs377224276
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.412A>C (p.Arg138=) rs2032076152
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) rs138724289
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.534G>T (p.Val178=) rs957009045
NM_005236.3(ERCC4):c.561G>A (p.Val187=) rs2141944913
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.584+14T>G
NM_005236.3(ERCC4):c.585-10G>A
NM_005236.3(ERCC4):c.585-14A>G
NM_005236.3(ERCC4):c.591T>C (p.His197=) rs1393847899
NM_005236.3(ERCC4):c.681T>G (p.Thr227=) rs2543171144
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.756A>G (p.Leu252=)
NM_005236.3(ERCC4):c.792+7T>C rs2543171359
NM_005236.3(ERCC4):c.792+7T>G
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) rs2032156289
NM_005236.3(ERCC4):c.973+17C>T rs754214169
NM_005236.3(ERCC4):c.973+20A>G rs1213973095
NM_005236.3(ERCC4):c.973+7G>A rs1216362714
NM_005236.3(ERCC4):c.974-20_974-16del rs2141949732
NM_005236.3(ERCC4):c.974-8C>T rs1567245872
NM_005236.3(ERCC4):c.981G>A (p.Leu327=) rs763789717

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