ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 2
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NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460

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