ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant cerebellar ataxia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301

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.