ClinVar Miner

List of variants reported as likely pathogenic for Coenzyme Q10 deficiency, primary, 1 by Genomics England Pilot Project, Genomics England

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	rs550949678	0.00102
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser)	rs369705200	0.00002

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