ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946

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.