ClinVar Miner

List of variants in gene COX15 studied for hereditary peripheral neuropathy

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_078470.6(COX15):c.*2649G>A rs1128642 0.27557
NM_078470.6(COX15):c.*1693G>A rs74981084 0.01485
NM_078470.6(COX15):c.*1876A>G rs115287270 0.01433
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721 0.00915
NM_078470.6(COX15):c.*1197T>C rs149696723 0.00897
NM_078470.6(COX15):c.-23G>T rs2231678 0.00765
NM_004376.6(COX15):c.-149G>T rs139698647 0.00745
NM_078470.6(COX15):c.*1591C>T rs190369277 0.00705
NM_078470.6(COX15):c.*1590A>C rs181768654 0.00704
NM_078470.6(COX15):c.*3247T>C rs74775778 0.00380
NM_078470.6(COX15):c.582+14A>G rs79410539 0.00263
NM_078470.6(COX15):c.*1776T>A rs145963002 0.00148
NM_078470.6(COX15):c.*1851G>T rs754063121 0.00080
NM_078470.6(COX15):c.*1850G>T rs755134012 0.00073
NM_078470.6(COX15):c.*2193A>T rs557527426 0.00069
NM_078470.6(COX15):c.*1716G>A rs186244558 0.00067
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_078470.6(COX15):c.*2060C>T rs886046606 0.00035
NM_078470.6(COX15):c.*2282G>A rs762075313 0.00034
NM_078470.6(COX15):c.*1309T>C rs556850599 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_078470.6(COX15):c.*1594C>G rs886046607 0.00024
NM_004376.6(COX15):c.-114A>G rs539821050 0.00023
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682 0.00021
NM_078470.6(COX15):c.*2745T>G rs952880831 0.00019
NM_078470.6(COX15):c.*2857A>G rs576268362 0.00013
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00013
NM_078470.6(COX15):c.255T>C (p.Ile85=) rs147881961 0.00013
NM_078470.6(COX15):c.*1362G>A rs750145039 0.00012
NM_078470.6(COX15):c.*2839G>T rs1025606598 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_004376.6(COX15):c.-133T>C rs566424487 0.00008
NM_078470.6(COX15):c.665G>A (p.Arg222His) rs377568460 0.00008
NM_078470.6(COX15):c.*1122C>G rs142892403 0.00004
NM_078470.6(COX15):c.*1349A>C rs779762294 0.00004
NM_078470.6(COX15):c.*2167A>G rs1487355609 0.00004
NM_078470.6(COX15):c.*2620C>T rs1327045732 0.00004
NM_078470.6(COX15):c.*2850A>G rs895123603 0.00004
NM_078470.6(COX15):c.*2898A>G rs886046601 0.00004
NM_078470.6(COX15):c.164G>A (p.Arg55Lys) rs777532861 0.00004
NM_078470.6(COX15):c.784C>T (p.Arg262Ter) rs774366079 0.00004
NM_004376.6(COX15):c.-142A>C rs560024737 0.00003
NM_078470.6(COX15):c.*2594T>G rs1470572029 0.00003
NM_078470.6(COX15):c.*2959G>C rs984578663 0.00002
NM_078470.6(COX15):c.841G>A (p.Val281Met) rs201703572 0.00002
NM_078470.6(COX15):c.*1474C>T rs886046608 0.00001
NM_078470.6(COX15):c.*2701A>G rs886046602 0.00001
NM_078470.6(COX15):c.161G>A (p.Gly54Glu) rs781108007 0.00001
NM_078470.6(COX15):c.293C>T (p.Ser98Leu) rs1315877896 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_078470.6(COX15):c.495G>T (p.Leu165=) rs2036978379 0.00001
NM_078470.6(COX15):c.832+9C>T rs777349150 0.00001
NM_078470.6(COX15):c.*1242A>G rs2036459883
NM_078470.6(COX15):c.*1361C>T rs886046610
NM_078470.6(COX15):c.*1793G>A rs574149332
NM_078470.6(COX15):c.*1957A>C rs2036431642
NM_078470.6(COX15):c.*2301G>A rs79573437
NM_078470.6(COX15):c.*2301G>C rs79573437
NM_078470.6(COX15):c.*2459G>T rs886046605
NM_078470.6(COX15):c.*2490T>C rs886046604
NM_078470.6(COX15):c.*2595C>T rs574033399
NM_078470.6(COX15):c.*2668C>G rs886046603
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.406G>C (p.Asp136His) rs766429756
NM_078470.6(COX15):c.490A>G (p.Ile164Val) rs749525116
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
NM_078470.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_078470.6(COX15):c.988-3C>T rs745556177
NM_078470.6(COX15):c.988-8C>A rs542092025

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