ClinVar Miner

List of variants reported as uncertain significance for coenzyme Q10 deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (13):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	rs35582308	0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)	rs199619932	0.00048
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)	rs2148132744

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