ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
NM_001303.3(COX10):c.-109G>A rs28680987
NM_001303.4(COX10):c.*1078C>T rs13183
NM_001303.4(COX10):c.*1101C>T rs75165393
NM_001303.4(COX10):c.*1324C>T rs75636595
NM_001303.4(COX10):c.*1385C>T rs1050223
NM_001303.4(COX10):c.*297G>A rs8076247
NM_001303.4(COX10):c.*438G>C rs75823746
NM_001303.4(COX10):c.*974C>A rs2071245
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.4(COX10):c.929-9_929-7dup rs144296730

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