ClinVar Miner

List of variants in gene CFTR reported as pathogenic by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 12
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NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.273+1G>A rs121908791
NM_000492.3(CFTR):c.274-1G>A rs121908792
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.4(CFTR):c.1516_1518ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486

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