ClinVar Miner

List of variants reported as likely benign for Beta-D-mannosidosis by Invitae

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Total variants: 8
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HGVS dbSNP
NM_005908.4(MANBA):c.1112+9T>C rs528890323
NM_005908.4(MANBA):c.168C>T (p.Gly56=)
NM_005908.4(MANBA):c.2416-9C>T rs200835097
NM_005908.4(MANBA):c.2416-9del rs1345228065
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) rs114543305
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075
NM_005908.4(MANBA):c.792C>T (p.Tyr264=)
NM_005908.4(MANBA):c.961G>T (p.Val321Phe) rs145367849

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