ClinVar Miner

List of variants reported as pathogenic for Beta-D-mannosidosis

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_005908.4(MANBA):c.1434del (p.Lys479fs) rs776601022 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) rs1309076303 0.00001
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) rs1035305358 0.00001
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NC_000004.11:g.(?_101947022)_(104640832_?)del
NC_000004.11:g.(?_103590100)_(103611948_?)del
NC_000004.11:g.(?_103610711)_(103645144_?)del
NM_005908.4(MANBA):c.1018del (p.Ser340fs)
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) rs121434336
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) rs1208178394
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs) rs760992372
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) rs121434334
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
NM_005908.4(MANBA):c.1705-1G>A rs1730296951
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) rs371368353
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) rs121434335
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
NM_005908.4(MANBA):c.386del (p.Asp129fs)
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
NM_005908.4(MANBA):c.646_647insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATATTTGTCACCTGA (p.Asn216delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)
NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter)
NM_005908.4(MANBA):c.677del (p.Lys226fs)
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
NM_005908.4(MANBA):c.819del (p.Ile274fs)
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
NM_005908.4(MANBA):c.916del (p.Leu306fs)

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