ClinVar Miner

List of variants in gene COQ8B reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024876.4(COQ8B):c.1036-3C>G rs200061712 0.00182
NM_024876.4(COQ8B):c.953C>T (p.Thr318Met) rs55899516 0.00044
NM_024876.4(COQ8B):c.1209G>A (p.Glu403=) rs148712761 0.00038
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys) rs144343899 0.00024
NM_024876.4(COQ8B):c.872C>T (p.Ala291Val) rs138255798 0.00019
NM_024876.4(COQ8B):c.706G>A (p.Val236Met) rs146225943 0.00017
NM_024876.4(COQ8B):c.691G>A (p.Gly231Arg) rs139202966 0.00016
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro) rs200480831 0.00016
NM_024876.4(COQ8B):c.863G>A (p.Arg288His) rs142018195 0.00013
NM_024876.4(COQ8B):c.1324G>A (p.Val442Met) rs763929551 0.00006
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00005
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu) rs745669537 0.00004
NM_024876.4(COQ8B):c.533G>A (p.Arg178Gln) rs771548569 0.00004
NM_024876.4(COQ8B):c.98G>A (p.Arg33His) rs145961802 0.00004
NM_024876.4(COQ8B):c.1090A>G (p.Met364Val) rs757057069 0.00003
NM_024876.4(COQ8B):c.1504C>T (p.Leu502Phe) rs953899645 0.00003
NM_024876.4(COQ8B):c.239G>A (p.Arg80Gln) rs749579754 0.00003
NM_024876.4(COQ8B):c.1304C>T (p.Ser435Phe) rs1218997842 0.00002
NM_024876.4(COQ8B):c.158G>T (p.Gly53Val) rs201791035 0.00002
NM_024876.4(COQ8B):c.196C>T (p.Arg66Cys) rs373891229 0.00002
NM_024876.4(COQ8B):c.443C>T (p.Thr148Ile) rs145416274 0.00002
NM_024876.4(COQ8B):c.923G>A (p.Arg308Gln) rs147037877 0.00002
NM_024876.4(COQ8B):c.1172G>A (p.Arg391Gln) rs765720942 0.00001
NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys) rs746915084 0.00001
NM_024876.4(COQ8B):c.287G>C (p.Gly96Ala) rs1221397795 0.00001
NM_024876.4(COQ8B):c.316G>A (p.Val106Ile) rs377240527 0.00001
NM_024876.4(COQ8B):c.421C>T (p.Arg141Trp) rs749111510 0.00001
NM_024876.4(COQ8B):c.62G>A (p.Gly21Asp) rs1481731248 0.00001
NM_024876.4(COQ8B):c.1171C>T (p.Arg391Trp)
NM_024876.4(COQ8B):c.1429C>T (p.Arg477Trp)
NM_024876.4(COQ8B):c.1448A>G (p.Glu483Gly)
NM_024876.4(COQ8B):c.188G>A (p.Arg63Gln)
NM_024876.4(COQ8B):c.49G>C (p.Gly17Arg) rs376750623
NM_024876.4(COQ8B):c.555C>G (p.Phe185Leu)
NM_024876.4(COQ8B):c.701T>A (p.Val234Glu) rs2515494979
NM_024876.4(COQ8B):c.983G>C (p.Gly328Ala)

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.