ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) rs3136151
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) rs139406689
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084
NM_005236.2(ERCC4):c.906T>C (p.Asp302=) rs148003381
NM_005236.3(ERCC4):c.1102+7T>A
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905
NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193

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