ClinVar Miner

List of variants studied for Fanconi anemia complementation group C by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) rs543546719

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