List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by SIB Swiss Institute of Bioinformatics

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	rs863224072	0.00003
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	rs267607261	0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	rs121909724	0.00001
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter)	rs772370243
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly)	rs1057524366
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)	rs200938111
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)	rs1553383467
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter)	rs1572542511
NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	rs886044113
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)	rs267607260
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro)	rs1572555080

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.