ClinVar Miner

List of variants in gene COX10 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 55
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HGVS dbSNP
NM_001303.3(COX10):c.*1076T>C rs1050216
NM_001303.3(COX10):c.*1078C>T rs13183
NM_001303.3(COX10):c.*1101C>T rs75165393
NM_001303.3(COX10):c.*1324C>T rs75636595
NM_001303.3(COX10):c.*1367G>A rs555512140
NM_001303.3(COX10):c.*1385C>T rs1050223
NM_001303.3(COX10):c.*13G>A rs371047487
NM_001303.3(COX10):c.*1459delC rs574015313
NM_001303.3(COX10):c.*150_*152delTTT rs200239586
NM_001303.3(COX10):c.*151_*152delTT rs200239586
NM_001303.3(COX10):c.*152T>A rs886052602
NM_001303.3(COX10):c.*297G>A rs8076247
NM_001303.3(COX10):c.*322T>C rs11078233
NM_001303.3(COX10):c.*371A>G rs11078234
NM_001303.3(COX10):c.*408G>A rs886052603
NM_001303.3(COX10):c.*438G>C rs75823746
NM_001303.3(COX10):c.*535C>A rs886052604
NM_001303.3(COX10):c.*564dupG rs886052605
NM_001303.3(COX10):c.*591_*592delAT rs886052606
NM_001303.3(COX10):c.*628C>G rs886052607
NM_001303.3(COX10):c.*646C>A rs7214082
NM_001303.3(COX10):c.*646C>G rs7214082
NM_001303.3(COX10):c.*739A>G rs886052608
NM_001303.3(COX10):c.*757T>C rs1802618
NM_001303.3(COX10):c.*823C>T rs886052609
NM_001303.3(COX10):c.*833_*834delCT rs397763766
NM_001303.3(COX10):c.*974C>A rs2071245
NM_001303.3(COX10):c.-109G>A rs28680987
NM_001303.3(COX10):c.-112G>A rs6502330
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.3(COX10):c.-24G>A rs201257809
NM_001303.3(COX10):c.-29C>A rs373184679
NM_001303.3(COX10):c.-40G>A rs376921957
NM_001303.3(COX10):c.-63C>T rs77877576
NM_001303.3(COX10):c.-90G>T rs886052598
NM_001303.3(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.3(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.3(COX10):c.173G>A (p.Arg58His) rs772223730
NM_001303.3(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.3(COX10):c.192G>A (p.Leu64=) rs569444237
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.3(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.3(COX10):c.476G>A (p.Arg159Gln) rs2072279
NM_001303.3(COX10):c.504G>A (p.Leu168=) rs2159132
NM_001303.3(COX10):c.543G>A (p.Pro181=) rs371273328
NM_001303.3(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.3(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001303.3(COX10):c.624+4A>G rs199668725
NM_001303.3(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.3(COX10):c.674C>T (p.Pro225Leu) rs104894556
NM_001303.3(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.929-9_929-7dupCCC rs144296730
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001303.3(COX10):c.982G>A (p.Ala328Thr) rs777911169

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