ClinVar Miner

List of variants in gene SCO1 reported as benign for Leigh syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_004589.4(SCO1):c.*320= rs2040570

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