ClinVar Miner

List of variants in gene ERCC4 reported as likely benign for aplastic anemia

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
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 0.00033
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_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.2545C>G (p.Gln849Glu) rs374186605 0.00008
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.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.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_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.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_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.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.1317C>T (p.Thr439=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
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.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.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.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.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.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.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.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.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=)

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.