List of variants reported as pathogenic for Charlevoix-Saguenay spastic ataxia by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	rs281865117	0.00001
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs)	rs2137724246
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)	rs137853016
NM_014363.6(SACS):c.2060del (p.Asp687fs)	rs2137716138
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)	rs137853019
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	rs770866403
NM_014363.6(SACS):c.3585del (p.Ile1195fs)	rs2137634136
NM_014363.6(SACS):c.4033dup (p.Gln1345fs)	rs606231163
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	rs137853017
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)	rs137853018

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.