ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported as uncertain significance by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903 0.00006
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.1155-14T>G rs2134552606
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) rs550462055
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1330-19_1330-10del rs1389222142
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val) rs2071083777
NM_000136.3(FANCC):c.541G>C (p.Ala181Pro) rs2135428686
NM_000136.3(FANCC):c.697T>C (p.Ser233Pro) rs1827537931
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.997-9C>G rs774886992

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