ClinVar Miner

List of variants in gene FANCA, LOC130059837 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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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.2661C>T (p.Asp887=) rs145941808 0.00003
NM_000135.4(FANCA):c.2610C>T (p.Phe870=) rs201160735 0.00002
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.2602-10T>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.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val) rs779617838 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.2638C>T (p.Arg880Ter) rs762804216 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.2602-11C>G
NM_000135.4(FANCA):c.2602-11C>T
NM_000135.4(FANCA):c.2602-12T>A
NM_000135.4(FANCA):c.2602-12T>C
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-1G>T 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.2602-3C>G rs2143289922
NM_000135.4(FANCA):c.2602-4T>C
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2613C>A (p.Leu871=) rs532032511
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
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.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
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.2634G>A (p.Glu878=) rs2143289424
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val) rs375919830
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
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.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2652T>G (p.Ser884=)
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
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.2664A>T (p.Val888=)
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) rs1419813684
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
NM_000135.4(FANCA):c.2674del (p.Ser892fs) rs2039077507
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.2678G>A (p.Trp893Ter) rs2039077331
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) rs2143288874
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)
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.2685del (p.Leu896fs)
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp) rs2143288811
NM_000135.4(FANCA):c.2688G>A (p.Leu896=) rs142393744
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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