ClinVar Miner

List of variants in gene CFTR reported by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 10
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HGVS dbSNP
NM_000492.3(CFTR):c.*94C>T
NM_000492.3(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.3(CFTR):c.1373delG (p.Gly458Aspfs) rs397508196
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983

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