ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853

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