ClinVar Miner

List of variants in gene combination SCO2, TYMP reported as benign for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 4
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HGVS dbSNP
NM_001169109.1(SCO2):c.-14+710G>C rs131806
NM_001169109.1(SCO2):c.-14+770G>A rs74479613
NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) rs1138404
NM_001257988.1(TYMP):c.972C>T (p.Ala324=) rs131804

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