ClinVar Miner

List of variants in gene COA8 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 6
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HGVS dbSNP
NM_001370595.1(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370595.1(COA8):c.314T>C (p.Phe105Ser) rs587777786
NM_001370595.1(COA8):c.328_330GAA[1] (p.Glu111del) rs587777787
NM_001370595.1(COA8):c.41dup (p.Leu15fs)
NM_001370595.1(COA8):c.476+1G>A rs900628637
NM_032374.4(COA8):c.163-1G>A rs587777785

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