ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia, autosomal recessive 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859

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.