ClinVar Miner

List of variants in gene COQ8A reported as likely 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.*72dup	rs1558212305
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)	rs1658479678

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