ClinVar Miner

List of variants in gene COQ4 reported as pathogenic for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive

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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_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_016035.5(COQ4):c.23_33del (p.Val8fs)	rs886041549

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