ClinVar Miner

List of variants reported as likely pathogenic for 3-Methylglutaconic aciduria type 3 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721

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