List of variants in gene combination CATIP, PNKD reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015488.5(PNKD):c.486G>A (p.Gly162=)	rs34014804	0.06442
NM_015488.5(PNKD):c.652C>A (p.Arg218=)	rs34745867	0.02221
NM_015488.5(PNKD):c.939G>A (p.Arg313=)	rs116144189	0.01319
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)	rs147259983	0.00139

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.