ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency 53

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
NM_153689.6(C2orf69):c.280del (p.Glu94fs) rs2106636277
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis) rs2106636278
NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
NM_153689.6(C2orf69):c.843_847del (p.Lys282fs) rs2106636543
NM_153689.6(C2orf69):c.909_925del (p.Ser304fs) rs2106636544
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter) rs2106636545

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.