ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Natera, Inc.

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_002437.5(MPV17):c.249G>A (p.Val83=) rs199952690 0.00024
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) rs112170670 0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys) rs367838807 0.00003
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.196G>T (p.Val66Leu) rs863224073 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.74C>A (p.Ser25Tyr) rs1679522385

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.