ClinVar Miner

List of variants in gene combination FANCA, LOC130059837 reported as likely benign for Fanconi anemia

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.2661C>T (p.Asp887=) rs145941808 0.00003
NM_000135.4(FANCA):c.2610C>T (p.Phe870=) rs201160735 0.00002
NM_000135.4(FANCA):c.2622A>G (p.Arg874=) rs1441752228 0.00002
NM_000135.4(FANCA):c.2667C>T (p.Ala889=) rs771425634 0.00002
NM_000135.4(FANCA):c.2602-10T>C rs899604473 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.2602-9C>G rs1406509004 0.00001
NM_000135.4(FANCA):c.2613C>T (p.Leu871=) rs532032511 0.00001
NM_000135.4(FANCA):c.2628C>T (p.Phe876=) rs368987148 0.00001
NM_000135.4(FANCA):c.2602-11C>G
NM_000135.4(FANCA):c.2602-11C>T
NM_000135.4(FANCA):c.2602-12T>C
NM_000135.4(FANCA):c.2602-4T>C
NM_000135.4(FANCA):c.2613C>A (p.Leu871=) rs532032511
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
NM_000135.4(FANCA):c.2634G>A (p.Glu878=) rs2143289424
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
NM_000135.4(FANCA):c.2652T>G (p.Ser884=)
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
NM_000135.4(FANCA):c.2664A>T (p.Val888=)
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) rs1419813684
NM_000135.4(FANCA):c.2676C>A (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2676C>G (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2688G>A (p.Leu896=) rs142393744

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