ClinVar Miner

List of variants in gene CFTR reported as pathogenic by GeneDx

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Total variants: 13
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NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2657+5G>A rs80224560
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
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.617T>G (p.Leu206Trp) rs121908752

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