ClinVar Miner

List of variants in gene CFTR reported as uncertain significance for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens

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Total variants: 8
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HGVS dbSNP
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073

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