ClinVar Miner

List of variants in gene MANBA reported as pathogenic for Beta-D-mannosidosis

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Total variants: 13
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HGVS dbSNP
MANBA, IVS-AS, A-G, -2
MANBA, IVS13AS, G-A, -1
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) rs121434336
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) rs121434334
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.2158-2A>G rs772852668
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) rs121434335
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242
NM_005908.4(MANBA):c.563_572dup (p.Trp192_Gly193insTer) rs752343321
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774
NM_005908.4(MANBA):c.960+1G>A rs890870104

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