ClinVar Miner

List of variants in gene combination CFTR, LOC113664106 reported as not provided

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Total variants: 7
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HGVS dbSNP
NM_000492.3(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.3(CFTR):c.169T>C (p.Trp57Arg) rs397508272
NM_000492.3(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.3(CFTR):c.172G>A (p.Asp58Asn) rs397508285
NM_000492.3(CFTR):c.173A>G (p.Asp58Gly) rs397508291
NM_000492.3(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.3(CFTR):c.178G>A (p.Glu60Lys) rs77284892

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