ClinVar Miner

List of variants reported as likely pathogenic for 3-Methylglutaconic aciduria type 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001017989.3(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_001017989.3(OPA3):c.142+1G>A rs1555736793
NM_001017989.3(OPA3):c.143-24059A>G rs1057516497
NM_001017989.3(OPA3):c.143-24183C>T rs28937899
NM_001017989.3(OPA3):c.143-24381dup rs1555732963
NM_001017989.3(OPA3):c.143-24384A>G rs1382779104
NM_001017989.3(OPA3):c.61A>T (p.Lys21Ter) rs1555736814

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.