ClinVar Miner

List of variants in gene PDSS2 reported as pathogenic for Coenzyme Q10 deficiency, primary, 3

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_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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