ClinVar Miner

List of variants reported as likely pathogenic for coenzyme Q10 deficiency by Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur

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_001358921.2(COQ2):c.744T>A (p.Asp248Glu)
NM_014317.5(PDSS1):c.668G>T (p.Gly223Val)
NM_182476.3(COQ6):c.10C>T (p.Arg4Trp)

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