ClinVar Miner

List of variants in gene ACO2, POLR3H studied for hereditary optic atrophy

Included ClinVar conditions (34):
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Total variants: 10
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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.2012G>A (p.Arg671Gln) rs755024692 0.00001
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)
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) rs2066638829
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) rs2066653512
NM_001098.3(ACO2):c.[1894G>A];[487G>T]

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