List of variants in gene combination CFTR, LOC111674475 reported as pathogenic by Mendelics

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	rs74597325	0.00012
NM_000492.4(CFTR):c.1585-1G>A	rs76713772	0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	rs121908755	0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)	rs75549581	0.00006
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.1585-8G>A	rs193922503
NM_000492.4(CFTR):c.1586_1679+1del	rs1562906265
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)	rs121909005
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)	rs76554633
NM_000492.4(CFTR):c.1656del (p.Gln552fs)	rs397508253
NM_000492.4(CFTR):c.1679+1G>A	rs397508263

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.