ClinVar Miner

List of variants in gene TOP3A reported as pathogenic for Mitochondrial disease

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_004618.5(TOP3A):c.403C>T (p.Arg135Ter)	rs200944917	0.00006
NM_004618.5(TOP3A):c.298A>G (p.Met100Val)	rs376902371	0.00004

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