List of variants in gene ACO2 reported as uncertain significance for optic atrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	rs141772938	0.00383
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	rs141878785	0.00064
NM_001098.3(ACO2):c.76C>T (p.Leu26=)	rs1057518832	0.00001
NM_001098.3(ACO2):c.1348C>T (p.Pro450Ser)
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
NM_001098.3(ACO2):c.317C>T (p.Ala106Val)	rs2146115810
NM_001098.3(ACO2):c.36+262C>T
NM_001098.3(ACO2):c.75C>T (p.Val25=)	rs1057518833

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