ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 10
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HGVS dbSNP
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.3(CFTR):c.964G>A (p.Val322Met) rs1800085

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