ClinVar Miner

List of variants in gene CFTR reported by Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
NM_000492.3(CFTR):c.3963+1G>A rs672601314
NM_000492.3(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) rs672601317

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.