ClinVar Miner

List of variants in gene MT-ND5 studied for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12923G>A
NC_012920.1(MT-ND5):m.13046T>C rs1603224015
NC_012920.1(MT-ND5):m.13289G>A
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-ND5):m.13912C>T
NC_012920.1(MT-ND5):m.14021T>C
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.13514A>G rs587776440
m.12770A>G rs267606894
m.13042G>A rs267606898
m.13045A>C rs267606895
m.13084A>T rs267606896
m.13513G>A rs267606897

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.