List of variants in gene MT-TH reported as uncertain significance for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.12143T>C	rs1603223568
NC_012920.1(MT-CYB):m.12144A>G	rs1603223569
NC_012920.1(MT-CYB):m.12150T>C	rs1603223574
NC_012920.1(MT-CYB):m.12163A>G	rs1603223581
NC_012920.1(MT-CYB):m.12173T>A	rs1556424075
NC_012920.1(MT-CYB):m.12176G>A	rs1603223594
NC_012920.1(MT-CYB):m.12184A>G	rs1603223603
NC_012920.1(MT-CYB):m.12185G>A	rs1603223607
NC_012920.1(MT-CYB):m.12202T>C	rs1603223613
NC_012920.1(MT-CYB):m.12204A>C	rs1603223614
NC_012920.1(MT-CYB):m.12205C>T	rs1603223615
m.12201T>C	rs387906733

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.