List of variants in gene combination ACO2, POLR3H reported as likely pathogenic for hereditary optic atrophy

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	rs864309499
NM_001098.3(ACO2):c.1823_1896dup (p.Arg633fs)
NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)

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