List of variants studied for Spastic ataxia 3

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
MARS2, DUP2
NM_138395.4(MARS2):c.1595C>G (p.Ala532Gly)
NM_138395.4(MARS2):c.1A>G (p.Met1Val)
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)	rs1574775353
NM_138395.4(MARS2):c.590T>A (p.Leu197His)	rs2106292827
NM_138395.4(MARS2):c.682_949del (p.Gly228fs)	rs1553608221
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)	rs1574775779

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.