ClinVar Miner

List of variants reported as not provided for congenital bilateral aplasia of vas deferens from CFTR mutation

Included ClinVar conditions (4):

Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.