List of variants in gene ARSA reported by Genetic Services Laboratory, University of Chicago

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_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	rs28940893	0.00037
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	rs74315475	0.00006
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)	rs774153480
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	rs551472773

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.