ClinVar Miner

List of variants in gene combination COQ2, LOC112997540 reported as uncertain significance for Coenzyme Q10 deficiency, primary, 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.-23C>G rs368891722 0.00013
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.9(COQ2):c.97C>T (p.His33Tyr) rs1735431555

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