List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)	rs778692687	0.00005
NM_004614.5(TK2):c.497A>T (p.Asp166Val)	rs921593414	0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro)	rs1168827071	0.00001

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.