ClinVar Miner

List of variants in gene CFTR reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 10
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HGVS dbSNP
NM_000492.3(CFTR):c.1357_1359TTG[1] (p.Leu454del) rs397508194
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492

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