ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)

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