ClinVar Miner

List of variants in gene CFTR, LOC111674463 studied for congenital bilateral absence of vas deferens

Included ClinVar conditions (6):

Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital bilateral absence of vas deferens
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Vas deferens, congenital bilateral aplasia of, X-linked

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.-887C>T	rs34465975	0.01630
NM_000492.4(CFTR):c.-34C>T	rs756314710

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