ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.5(MPV17):c.122_147del (p.Arg41fs) rs397507438
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) rs121909722
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725

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.