ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP
NC_000004.12:g.(?_102650517)_(102726703_?)del
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) rs1432738569
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
NM_005908.4(MANBA):c.178-3C>T
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) rs538584064
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)

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