ClinVar Miner

List of variants in gene COX15 studied for Leigh syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP
NC_000010.11:g.99732191T>G
NC_000010.11:g.99732198C>A
NM_004376.6(COX15):c.-114A>G rs539821050
NM_004376.6(COX15):c.-133T>C rs566424487
NM_004376.6(COX15):c.-84G>A rs574143521
NM_078470.6(COX15):c.*1122C>G rs142892403
NM_078470.6(COX15):c.*1126T>C rs2231687
NM_078470.6(COX15):c.*1197T>C rs149696723
NM_078470.6(COX15):c.*1242A>G
NM_078470.6(COX15):c.*1309T>C rs556850599
NM_078470.6(COX15):c.*1349A>C
NM_078470.6(COX15):c.*1361C>T rs886046610
NM_078470.6(COX15):c.*1362G>A
NM_078470.6(COX15):c.*1474C>T rs886046608
NM_078470.6(COX15):c.*1590A>C
NM_078470.6(COX15):c.*1591C>T
NM_078470.6(COX15):c.*1594C>G rs886046607
NM_078470.6(COX15):c.*1693G>A rs74981084
NM_078470.6(COX15):c.*1716G>A rs186244558
NM_078470.6(COX15):c.*1776T>A rs145963002
NM_078470.6(COX15):c.*1793G>A rs574149332
NM_078470.6(COX15):c.*1850G>T rs755134012
NM_078470.6(COX15):c.*1851G>T rs754063121
NM_078470.6(COX15):c.*1876A>G
NM_078470.6(COX15):c.*1957A>C
NM_078470.6(COX15):c.*2060C>T rs886046606
NM_078470.6(COX15):c.*2167A>G
NM_078470.6(COX15):c.*2193A>T rs557527426
NM_078470.6(COX15):c.*2282G>A rs762075313
NM_078470.6(COX15):c.*2301G>A
NM_078470.6(COX15):c.*2301G>C
NM_078470.6(COX15):c.*2459G>T rs886046605
NM_078470.6(COX15):c.*2490T>C rs886046604
NM_078470.6(COX15):c.*2594T>G
NM_078470.6(COX15):c.*2595C>T
NM_078470.6(COX15):c.*2620C>T
NM_078470.6(COX15):c.*2649G>A rs1128642
NM_078470.6(COX15):c.*2668C>G rs886046603
NM_078470.6(COX15):c.*2701A>G rs886046602
NM_078470.6(COX15):c.*2745T>G
NM_078470.6(COX15):c.*2839G>T
NM_078470.6(COX15):c.*2850A>G
NM_078470.6(COX15):c.*2857A>G rs576268362
NM_078470.6(COX15):c.*2898A>G rs886046601
NM_078470.6(COX15):c.*2959G>C
NM_078470.6(COX15):c.*3247T>C rs74775778
NM_078470.6(COX15):c.-23G>T rs2231678
NM_078470.6(COX15):c.-26A>G rs2231677
NM_078470.6(COX15):c.-71T>C rs886046612
NM_078470.6(COX15):c.1029C>A (p.Leu343=) rs757725009
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146
NM_078470.6(COX15):c.161G>A (p.Gly54Glu) rs781108007
NM_078470.6(COX15):c.164G>A (p.Arg55Lys) rs777532861
NM_078470.6(COX15):c.255T>C (p.Ile85=) rs147881961
NM_078470.6(COX15):c.293C>T (p.Ser98Leu)
NM_078470.6(COX15):c.406G>C (p.Asp136His) rs766429756
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_078470.6(COX15):c.495G>T (p.Leu165=)
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721
NM_078470.6(COX15):c.582+14A>G rs79410539
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682
NM_078470.6(COX15):c.665G>A (p.Arg222His)
NM_078470.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_078470.6(COX15):c.784C>T (p.Arg262Ter) rs774366079
NM_078470.6(COX15):c.832+9C>T
NM_078470.6(COX15):c.841G>A (p.Val281Met)
NM_078470.6(COX15):c.84A>G (p.Arg28=)
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000
NM_078470.6(COX15):c.988-3C>T rs745556177
NM_078470.6(COX15):c.988-8C>A rs542092025

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