ClinVar Miner

List of variants in gene SCO1 reported as uncertain significance for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_004589.4(SCO1):c.*127A>G rs779082082
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*349C>G rs151279533
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*594A>G rs183020275
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.*61A>C rs886052594
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078

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.