ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.178-8A>G rs113584126
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168

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