ClinVar Miner

List of variants in gene OPA1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1948dup (p.Glu650fs) rs2109083754

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.