ClinVar Miner

List of variants in gene CFTR reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+77A>G rs143382119
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1680-871A>G rs572658447
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2475C>T (p.Asn825=) rs746961486
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.744-9_744-6dupGATT rs1805171

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