List of variants studied for Mucopolysaccharidosis type 6 by Pars Genome Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1143-27A>C	rs25415	0.35226
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)	rs1065757	0.34386
NM_000046.5(ARSB):c.313-26T>C	rs3733895	0.30018
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)	rs25413	0.26326
NM_000046.5(ARSB):c.691-22T>C	rs6870443	0.14194
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)	rs1071598	0.12316

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.