ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency, primary 1 by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 7
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HGVS dbSNP
NM_001195248.2(APTX):c.-5+2T>G rs1563993041
NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) rs765403087
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_020247.5(COQ8A):c.*72dup rs1558212305
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) rs750925071
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) rs766591347

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