ClinVar Miner

List of variants in gene FANCA, LOC132090450 studied for Fanconi anemia complementation group A

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3408+45G>A rs1800355 0.05862
NM_000135.4(FANCA):c.3408+33T>C rs17227191 0.01757
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00040
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00007
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00001
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) rs2038408351
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) rs373168838
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs) rs2544120712
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs) rs2038407808
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+1G>A rs1567601557
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3409-25_3418del rs2544119774

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