ClinVar Miner

List of variants reported as benign for X-linked progressive cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714

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.