ClinVar Miner

List of variants in gene ACO2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_001098.3(ACO2):c.72A>G (p.Ser24=) rs188233863 0.00023
NM_001098.3(ACO2):c.1049A>G (p.Asn350Ser) rs370742333 0.00001
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715
NM_001098.3(ACO2):c.1497G>A (p.Leu499=)
NM_001098.3(ACO2):c.546G>A (p.Ala182=) rs561001165
NM_001098.3(ACO2):c.546G>T (p.Ala182=) rs561001165

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