ClinVar Miner

List of variants in gene combination NDUFA2, TMCO6 reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_002488.4(NDUFA2):c.-50G>A rs143857164 0.00135
NM_002488.4(NDUFA2):c.-63G>A rs748460855 0.00020
NM_002488.4(NDUFA2):c.-114T>A rs760264090 0.00009
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416 0.00004
NM_002488.4(NDUFA2):c.-53A>G rs747127939 0.00003
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) rs200255683 0.00002
NM_002488.4(NDUFA2):c.-145T>A rs886060017 0.00001
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) rs1255776529

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.