List of variants in gene combination ACO2, POLR3H reported as uncertain significance for 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)	rs200345386	0.00011
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)	rs768950391	0.00006
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del)	rs2066638829

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