ClinVar Miner

List of variants reported as pathogenic for Beta-D-mannosidosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.2158-2A>G rs772852668
NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer) rs752343321
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774

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