ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter)

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