ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) rs397508778

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