List of variants in gene combination CFTR, LOC111674475 reported as pathogenic for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	rs74597325	0.00012
NM_000492.4(CFTR):c.1585-1G>A	rs76713772	0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	rs121908755	0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	rs75549581	0.00006
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)	rs80055610	0.00002
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757

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