ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by Wellcome Centre for Mitochondrial Research,Newcastle University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser) rs1553877864
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530

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.