ClinVar Miner

List of variants reported as benign for Pontocerebellar hypoplasia type 1A by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532

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.