ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Istanbul Faculty of Medicine, Istanbul University

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) rs769203048
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2504+3G>A rs2039260426
NM_000135.4(FANCA):c.2504+5G>T rs2039260372
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) rs2143288874
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro) rs2038841366
NM_000135.4(FANCA):c.3935-7G>A rs2062071481
NM_000135.4(FANCA):c.495del (p.Phe166fs) rs2143677288
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) rs1598173112

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