ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 8
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NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788

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