ClinVar Miner

List of variants studied for Coenzyme Q10 deficiency, primary 1

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Total variants: 20
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NM_001195248.2(APTX):c.-5+2T>G rs1563993041
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_001358921.2(COQ2):c.253+4A>T rs907149421
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) rs1577986966
NM_015697.8(COQ2):c.1197del (p.Asn401fs) rs750710187
NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) rs765403087
NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) rs121918233
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) rs1161445886
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) rs121918230
NM_015697.8(COQ2):c.894T>C (p.Asp298=) rs6535454
NM_015697.8(COQ2):c.990C>T (p.Ser330=) rs1129617
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
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)

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