List of variants in gene CFTR reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1680-871A>G	rs572658447	0.00636
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	rs1800131	0.00101
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.489+8T>C	rs727504712

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.