ClinVar Miner

List of variants in gene FANCA, LOC130059837 studied for Fanconi anemia complementation group A

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Total variants: 39
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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 0.00027
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00007
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00004
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00003
NM_000135.4(FANCA):c.2689C>G (p.His897Asp) rs766402927 0.00002
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588 0.00001
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter) rs1286812517 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) rs756314107 0.00001
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) rs762804216 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602-2A>G rs1555545592
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2607G>T (p.Gln869His)
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys) rs1017086086
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val) rs375919830
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs) rs2544178563
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2650del (p.Ser884fs) rs2544178554
NM_000135.4(FANCA):c.2661C>G (p.Asp887Glu)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe) rs749778768
NM_000135.4(FANCA):c.2674del (p.Ser892fs) rs2039077507
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) rs2039077331
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) rs2143288874
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter) rs2544178386
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) rs1234246540
NM_000135.4(FANCA):c.2685del (p.Leu896fs) rs2544178360
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe) rs142393744

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