ClinVar Miner

List of variants in gene FANCA reported by ITMI

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Total variants: 46
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HGVS dbSNP
NM_000135.2(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.2(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.2(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.2(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.2(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.2(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.2(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.2(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.2(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.2(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.2(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.2(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.2(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.2(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.2(FANCA):c.80-13C>T rs189841793
NM_000135.2(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.2(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.2(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.3(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
NM_000135.3(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.3(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.3(FANCA):c.1861delT (p.Tyr621Thrfs) rs587778311
NM_000135.3(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.3(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.3(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.3(FANCA):c.2568G>C (p.Leu856Phe) rs587778314
NM_000135.3(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.3(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.3(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.3(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.3(FANCA):c.2977C>A (p.Gln993Lys) rs140823801
NM_000135.3(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.3(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.3(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.3(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482
NM_000135.3(FANCA):c.370A>T (p.Ile124Phe) rs553656166
NM_000135.3(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.3(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.3(FANCA):c.754_755delGAinsAG (p.Asp252Ser) rs587778324
NM_000135.3(FANCA):c.764_766del (p.Arg255del) rs555210441

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