ClinVar Miner

List of variants reported as likely pathogenic for Beta-D-mannosidosis by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)	rs781584789	0.00011
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)	rs374377679	0.00002
NM_005908.4(MANBA):c.177+2T>C	rs779221957

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