ClinVar Miner

List of variants in gene CLPB reported as likely pathogenic for 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

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Total variants: 4
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NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855

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