ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q

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Total variants: 72
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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.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.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe) rs1261870926 0.00005
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) rs144608823 0.00001
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)
NM_005236.3(ERCC4):c.1373G>T (p.Ser458Ile)
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1418A>G (p.Gln473Arg)
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1501C>A (p.Pro501Thr)
NM_005236.3(ERCC4):c.1525G>A (p.Asp509Asn)
NM_005236.3(ERCC4):c.1656dup (p.Ile553fs)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1768C>G (p.Gln590Glu)
NM_005236.3(ERCC4):c.1901_1902del (p.Ile634fs)
NM_005236.3(ERCC4):c.1905-8_1909del
NM_005236.3(ERCC4):c.2017+1G>A rs587777943
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2236_2243delinsTGTACA (p.Ile746fs)
NM_005236.3(ERCC4):c.2360A>G (p.Lys787Arg)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.2425A>G (p.Thr809Ala)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.295G>C (p.Glu99Gln)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.388+1G>A
NM_005236.3(ERCC4):c.389-6C>G
NM_005236.3(ERCC4):c.412A>G (p.Arg138Gly)
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.792+3A>G
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)

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