ClinVar Miner

List of variants reported as uncertain significance for Coenzyme Q10 deficiency, primary, 1 by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) rs750925071 0.00001
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) rs766591347 0.00001
NM_001195248.2(APTX):c.-5+2T>G rs1563993041
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303

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