ClinVar Miner

List of variants in gene combination LOC130064709, OPA3 reported as pathogenic for 3-methylglutaconic aciduria type 3

Included ClinVar conditions (2):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln)	rs1969907819

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