ClinVar Miner

List of variants reported as likely benign for Cockayne syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_000124.4(ERCC6):c.*1327G>A rs117289374 0.01454
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000082.3(ERCC8):c.-133C>G rs4647037 0.00723
NM_000124.4(ERCC6):c.*1981dup rs557832376 0.00515
NM_000124.4(ERCC6):c.*2155T>C rs114183603 0.00503
NM_000124.4(ERCC6):c.*3921A>G rs533984667 0.00364
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.*118A>C rs4253233 0.00201
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 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.1274A>C (p.Asp425Ala) rs4253046 0.00188
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.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro) rs150727525 0.00131
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
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_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_000124.4(ERCC6):c.*1314G>A rs542053472 0.00043
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00033
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 0.00018
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00016
NM_000124.4(ERCC6):c.*4208A>G rs182395696 0.00014
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00014
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.1102+13G>T rs199772721 0.00010
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 0.00009
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) rs758451676 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 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_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562 0.00007
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=) rs555317161 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00006
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) rs200818432 0.00006
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 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.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.69G>A (p.Val23=) rs201606798 0.00003
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) rs762885804 0.00002
NM_005236.3(ERCC4):c.1214-19T>C rs747124669 0.00002
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.2436G>A (p.Leu812=) rs373510515 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.540A>G (p.Arg180=) rs765599689 0.00002
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 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.1214-4T>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.15G>A (p.Gln5=) rs748509102 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.2175G>A (p.Glu725=) rs769731155 0.00001
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541 0.00001
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00001
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) rs1477890575 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.2646C>T (p.Asp882=) rs538267970 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193 0.00001
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00001
NM_005236.3(ERCC4):c.974-17T>C rs2032183635 0.00001
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
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=)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
NM_005236.3(ERCC4):c.1102+14T>C
NM_005236.3(ERCC4):c.1102+20C>T
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
NM_005236.3(ERCC4):c.1213+8A>G
NM_005236.3(ERCC4):c.1214-10C>A
NM_005236.3(ERCC4):c.1214-8A>G
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) rs2141606819
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.132C>T (p.Leu44=) rs1482378244
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
NM_005236.3(ERCC4):c.178C>T (p.Leu60=) rs2141937412
NM_005236.3(ERCC4):c.1811+16T>C
NM_005236.3(ERCC4):c.1811+9T>A
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
NM_005236.3(ERCC4):c.183G>A (p.Val61=) rs1215558892
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.3(ERCC4):c.1904+7C>T
NM_005236.3(ERCC4):c.1905-20G>C
NM_005236.3(ERCC4):c.1905-4A>G
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
NM_005236.3(ERCC4):c.2017+19del
NM_005236.3(ERCC4):c.2018-19A>T
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
NM_005236.3(ERCC4):c.207+13T>A rs759023704
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G
NM_005236.3(ERCC4):c.207+19G>T
NM_005236.3(ERCC4):c.208-19C>G
NM_005236.3(ERCC4):c.208-6A>G rs1596617926
NM_005236.3(ERCC4):c.208-7G>T
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
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.2187C>T (p.Ile729=)
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.22C>A (p.Arg8=) rs774510191
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) rs765321722
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=) rs111613748
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
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.2535T>C (p.Asn845=)
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=)
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+15T>C
NM_005236.3(ERCC4):c.388+20_388+25del
NM_005236.3(ERCC4):c.389-5C>A
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) rs138724289
NM_005236.3(ERCC4):c.42G>A (p.Pro14=) rs2141936987
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
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.555T>C (p.Leu185=) rs113129434
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.585-18A>C
NM_005236.3(ERCC4):c.591T>C (p.His197=)
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
NM_005236.3(ERCC4):c.792+7T>C
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
NM_005236.3(ERCC4):c.793-18A>G
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) rs2032156289
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
NM_005236.3(ERCC4):c.973+17C>T
NM_005236.3(ERCC4):c.973+20A>G
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=)
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.