ClinVar Miner

List of variants in gene MANBA reported as uncertain significance for Beta-D-mannosidosis

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Total variants: 69
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HGVS dbSNP
NC_000004.12:g.(?_102650517)_(102726703_?)del
NM_005908.4(MANBA):c.*172G>A rs146374185
NM_005908.4(MANBA):c.*184A>G rs886058967
NM_005908.4(MANBA):c.*314A>G rs886058966
NM_005908.4(MANBA):c.*328T>A
NM_005908.4(MANBA):c.*447G>A
NM_005908.4(MANBA):c.*503G>C
NM_005908.4(MANBA):c.*516T>C rs562838260
NM_005908.4(MANBA):c.*8T>G rs199881261
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
NM_005908.4(MANBA):c.1112+8A>C rs752741187
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) rs1432738569
NM_005908.4(MANBA):c.1317+14C>A
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) rs778853902
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
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.1913G>A (p.Arg638His)
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) rs763613927
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
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.2311G>T (p.Val771Phe) rs201779762
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2416-3C>T
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
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.378+1G>A rs142029636
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser)
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
NM_005908.4(MANBA):c.961-8C>A rs886058969

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