ClinVar Miner

List of variants in gene SCO2, TYMP studied 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
NM_001169109.1(SCO2):c.-14+479C>T rs372620403
NM_001169109.1(SCO2):c.-14+486G>A rs369012029
NM_001169109.1(SCO2):c.-14+653_-14+656dup rs143413019
NM_001169109.1(SCO2):c.-14+710G>C rs131806
NM_001169109.1(SCO2):c.-14+770G>A rs74479613
NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) rs762630777
NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) rs764142194
NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) rs771700483
NM_001257988.1(TYMP):c.1176C>T (p.Val392=) rs770533125
NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) rs1138404
NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) rs377497287
NM_001257988.1(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001257988.1(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) rs778306525
NM_001953.4(TYMP):c.929-6_929-3del rs201685922

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.