ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.1083+1del rs2544275712
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2187C>A (p.Asn729Lys) rs771833978
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) rs758384536
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3759_3762del (p.Glu1254fs)
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595

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