Variants with conflicting interpretations "pathogenic" from CFTR-France and "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum review status of the submission from CFTR-France:		Collection method of the submission from CFTR-France:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	rs397508556	0.00011
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00008
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612
NM_000492.4(CFTR):c.4243-7del	rs878854021

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.