ClinVar Miner

List of variants reported as uncertain significance for congenital bilateral aplasia of vas deferens from CFTR mutation by Baylor Genetics

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

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Minimum conflict level: Report conflict between different conditions
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.389T>C (p.Leu130Pro)	rs1798853976
NM_000492.4(CFTR):c.490-25A>G	rs1798909647

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