ClinVar Miner

List of variants reported as likely benign for Beta-D-mannosidosis by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>T rs34754408

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