ClinVar Miner

List of variants in gene CFTR reported by Ambry Genetics

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Total variants: 7
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HGVS dbSNP
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340

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