ClinVar Miner

List of variants in gene CFTR reported as pathogenic by American College of Medical Genetics and Genomics (ACMG)

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Gene type:
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Total variants: 17
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NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1516_1518ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1766+1G>A rs121908748
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.4(CFTR):c.2657+5G>A rs80224560
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.4(CFTR):c.489+1G>T rs78756941
NM_000492.4(CFTR):c.579+1G>T rs77188391

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