List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome, myopathic form; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	0.00008
NM_004614.5(TK2):c.133C>T (p.Gln45Ter)	rs281865486	0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	rs138439950	0.00001
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)	rs752949191	0.00001
NM_004614.5(TK2):c.144_145del (p.Lys50fs)	rs1454450104
NM_004614.5(TK2):c.1A>T (p.Met1Leu)	rs973152588
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)	rs886039669

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.