ClinVar Miner

List of variants in gene MAN2B1 reported as pathogenic for Deficiency of alpha-mannosidase

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Gene type:
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Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00005
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer) rs999923581 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.241del (p.Val81fs) rs746868162 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs) rs2145250113 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs) rs752987724 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.437-1G>A rs200048536 0.00001
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter) rs1445498020 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter) rs2512512433 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NC_000019.9:g.(?_12757424)_(12769334_?)del
NC_000019.9:g.(?_12757434)_(12758432_?)del
NC_000019.9:g.(?_12757434)_(12761056_?)del
NC_000019.9:g.(?_12757434)_(12772210_?)del
NC_000019.9:g.(?_12760707)_(12761056_?)del
NC_000019.9:g.(?_12762947)_(12769344_?)del
NC_000019.9:g.(?_12762947)_(12772210_?)del
NC_000019.9:g.(?_12767365)_(12769344_?)del
NC_000019.9:g.(?_12768867)_(12769334_?)del
NC_000019.9:g.(?_12774121)_(12774659_?)del
NC_000019.9:g.(?_12775596)_(12777525_?)del
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs) rs2024251717
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs) rs2024028589
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs) rs2512503786
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter) rs767768982
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs) rs2512503737
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter) rs1447244591
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter) rs2512503667
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter) rs370760999
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1278del (p.Tyr428fs) rs2512503118
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.1310-2A>G rs1238492400
NM_000528.4(MAN2B1):c.131del (p.Ala44fs) rs2512519985
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs) rs2512519922
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs) rs2145254277
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs) rs2512500073
NM_000528.4(MAN2B1):c.1527+1G>T rs1322313985
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs) rs2512499210
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1644+4A>G rs1218254964
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs) rs2512497760
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs) rs2145290929
NM_000528.4(MAN2B1):c.1694del (p.Leu565fs)
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter) rs2145250103
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929-2A>G rs2023856348
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs) rs754014741
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter) rs2512492578
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter) rs764376758
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter) rs2512489979
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs) rs2512489970
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs) rs2145290731
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs) rs750179985
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs) rs2512488438
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs) rs2512488403
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs) rs2512488379
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs) rs2145290586
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.2437-2A>C rs1445197546
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs) rs2145225759
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter) rs2512486704
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs) rs2145225515
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter) rs2024217585
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs) rs2512486513
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs) rs2024217430
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs) rs2512486445
NM_000528.4(MAN2B1):c.262+1G>C rs2145290458
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs) rs2145224416
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs) rs2512484336
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.2970del (p.Thr991fs) rs2512483255
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter) rs2145289566
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs) rs2512516429
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter) rs2512516231
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter) rs2512514945
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer) rs2024192356
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer) rs2512514928
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs) rs2145287284
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.522del (p.Leu176fs) rs2512514781
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.579G>A (p.Trp193Ter) rs2512514593
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs) rs2512514455
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs) rs2512514455
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs) rs2512514374
NM_000528.4(MAN2B1):c.627_630+1dup rs2145286437
NM_000528.4(MAN2B1):c.632del (p.Met211fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs) rs2512512484
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs) rs2512512467
NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter) rs2512512354
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter) rs772562587
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.909+1G>A
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs) rs2145272932

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