ClinVar Miner

List of variants in gene MAN2B1 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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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.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1420-1G>A rs752229880 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 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.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1027-1G>C
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-1G>A
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1110dup
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
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.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1420-104_1449del
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter) rs2023979174
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter) rs755508725
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1527+1G>A
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.162del (p.Cys55fs) rs2145290970
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter) rs2023939487
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
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.1929-2A>T
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter) rs2023853280
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter) rs2023852354
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter) rs2023851530
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter) rs2023809731
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter) rs2023809176
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly) rs80338680
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-2A>T rs2023783146
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
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.2396del (p.Gln799fs)
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+5G>A
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.263-1G>A
NM_000528.4(MAN2B1):c.263-2A>C
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2665-2A>G
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2821-2A>G
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs) rs2023710111
NM_000528.4(MAN2B1):c.2917_2923+1dup
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys) rs2024208039
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
NM_000528.4(MAN2B1):c.631-2A>C
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu) rs574202419
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter) rs1329771201
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
NM_000528.4(MAN2B1):c.909+1G>C
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) rs774034389
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)

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