ClinVar Miner

List of variants in gene COX15 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: 40
Download table as spreadsheet
HGVS dbSNP
NM_004376.6(COX15):c.*1020A>T rs557527426
NM_004376.6(COX15):c.*1109G>A rs762075313
NM_004376.6(COX15):c.*1286G>T rs886046605
NM_004376.6(COX15):c.*1317T>C rs886046604
NM_004376.6(COX15):c.*136T>C rs556850599
NM_004376.6(COX15):c.*1495C>G rs886046603
NM_004376.6(COX15):c.*1528A>G rs886046602
NM_004376.6(COX15):c.*1582delT rs145731044
NM_004376.6(COX15):c.*1684A>G rs576268362
NM_004376.6(COX15):c.*1725A>G rs886046601
NM_004376.6(COX15):c.*188C>T rs886046610
NM_004376.6(COX15):c.*2074T>C rs74775778
NM_004376.6(COX15):c.*24T>C rs149696723
NM_004376.6(COX15):c.*256_*257del rs886046609
NM_004376.6(COX15):c.*301C>T rs886046608
NM_004376.6(COX15):c.*421C>G rs886046607
NM_004376.6(COX15):c.*520G>A rs74981084
NM_004376.6(COX15):c.*543G>A rs186244558
NM_004376.6(COX15):c.*603T>A rs145963002
NM_004376.6(COX15):c.*620G>A rs574149332
NM_004376.6(COX15):c.*677G>T rs755134012
NM_004376.6(COX15):c.*678G>T rs754063121
NM_004376.6(COX15):c.*887C>T rs886046606
NM_004376.6(COX15):c.-114A>G rs539821050
NM_004376.6(COX15):c.-133T>C rs566424487
NM_004376.6(COX15):c.-26A>G rs2231677
NM_004376.6(COX15):c.-71T>C rs886046612
NM_004376.6(COX15):c.-84G>A rs574143521
NM_004376.6(COX15):c.1029C>A (p.Leu343=) rs757725009
NM_004376.6(COX15):c.107G>A (p.Arg36His) rs763754710
NM_004376.6(COX15):c.1116C>G (p.Phe372Leu) rs142892403
NM_004376.6(COX15):c.131G>A (p.Ser44Asn) rs141506146
NM_004376.6(COX15):c.161G>A (p.Gly54Glu) rs781108007
NM_004376.6(COX15):c.164G>A (p.Arg55Lys) rs777532861
NM_004376.6(COX15):c.255T>C (p.Ile85=) rs147881961
NM_004376.6(COX15):c.406G>C (p.Asp136His) rs766429756
NM_004376.6(COX15):c.582+14A>G rs79410539
NM_004376.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_004376.6(COX15):c.929C>G (p.Pro310Arg) rs138293000
NM_004376.6(COX15):c.988-3C>T rs745556177

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.