ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as uncertain significance for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	rs387906368	0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	rs144745159	0.00001

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