ClinVar Miner

List of variants in gene combination FANCA, LOC130059837 reported as uncertain significance for anemia

Included ClinVar conditions (292):
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Total variants: 43
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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.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00004
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) rs756314107 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.2689C>G (p.His897Asp) rs766402927 0.00002
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val) rs779617838 0.00001
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys) rs776492214 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu) rs1424540726 0.00001
NM_000135.4(FANCA):c.2602-12T>A
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-2A>G rs1555545592
NM_000135.4(FANCA):c.2602-3C>G rs2143289922
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro) rs1322274178
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser) rs1938055960
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly) rs1222220230
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu) rs774863156
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala) rs755207440
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) rs1234246540
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp) rs2143288811
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe) rs142393744
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr) rs766402927
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)

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