ClinVar Miner

List of variants reported as pathogenic for Coenzyme Q10 deficiency, primary, 3

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)	rs118203956	0.00002
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)	rs118203955	0.00001

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