List of variants studied for mitochondrial DNA depletion syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
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.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr)	rs778611629	0.00002
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	rs398123059
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	rs765882664
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)	rs200938111
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)	rs2055345819
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	rs117182113
NM_007215.4(POLG2):c.730C>A (p.Pro244Thr)	rs782561430
NM_052865.4(MGME1):c.55_57del (p.Ser19del)	rs766468409

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.