List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by 3billion, Medical Genetics

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	0.00013
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_030631.4(SLC25A21):c.532C>T (p.Arg178Ter)	rs200963388	0.00004
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	rs201732356	0.00003
NM_001278716.2(FBXL4):c.1440dup (p.Leu481fs)	rs879255542
NM_002437.5(MPV17):c.280-1dup	rs766160589
NM_003850.3(SUCLA2):c.964+1G>A
NM_004614.5(TK2):c.144_145del (p.Lys50fs)	rs1454450104
NM_080916.3(DGUOK):c.173_176del (p.Leu58fs)

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.