List of variants in gene combination GALNS, LOC126862447 reported as benign for Mucopolysaccharidosis, MPS-IV-A

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)	rs2303271	0.40780
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)	rs114703967	0.03559
NM_000512.5(GALNS):c.1413C>T (p.Val471=)	rs73251084	0.01159
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)	rs151296605	0.00596
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)	rs147536058	0.00336
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)	rs78127134	0.00140

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.