ClinVar Miner

List of variants in gene ARSA reported as pathogenic for Metachromatic leukodystrophy, severe

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) rs74315460
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474

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.