List of variants in gene COQ2 reported as pathogenic for Coenzyme Q10 deficiency, primary, 1

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	rs121918232	0.00009
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)	rs121918233	0.00002
NM_001358921.2(COQ2):c.1047del (p.Asn351fs)	rs750710187
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)	rs121918230

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