ClinVar Miner

List of variants in gene CFTR reported as likely benign by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1545T>C (p.Tyr515=) rs747504631
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2424T>C (p.Tyr808=) rs143954792
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.927C>G (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.927C>T (p.Ala309=) rs1800084

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