ClinVar Miner

List of variants in gene MAN2B1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 571
Download table as spreadsheet
HGVS dbSNP
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.9:g.(?_12758358_12759516del
NC_000019.9:g.(?_12760717)_(12761046_?)del
NC_000019.9:g.(?_12762957)_(12772200_?)del
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.*105C>G rs547349667
NM_000528.4(MAN2B1):c.*41C>T
NM_000528.4(MAN2B1):c.*42G>A rs149101136
NM_000528.4(MAN2B1):c.*91C>T
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=) rs1389459819
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=) rs755616565
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1026+8C>T
NM_000528.4(MAN2B1):c.1026+9G>A rs762829719
NM_000528.4(MAN2B1):c.1027-4G>A rs368900863
NM_000528.4(MAN2B1):c.1027-7C>T
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=)
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=)
NM_000528.4(MAN2B1):c.1109+10G>A
NM_000528.4(MAN2B1):c.1109+1G>C
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-15C>G
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1110-4G>A rs758041910
NM_000528.4(MAN2B1):c.1110-4G>T
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu) rs745579139
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=)
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=)
NM_000528.4(MAN2B1):c.1136C>T (p.Pro379Leu) rs864621981
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys) rs864621982
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=)
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=)
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776
NM_000528.4(MAN2B1):c.1221C>T (p.Asn407=)
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824
NM_000528.4(MAN2B1):c.1231-13C>T
NM_000528.4(MAN2B1):c.1231-5T>A rs1419185296
NM_000528.4(MAN2B1):c.1231-5_1231-4dup
NM_000528.4(MAN2B1):c.1231-7C>T
NM_000528.4(MAN2B1):c.1231-8G>T
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.1245G>A (p.Leu415=)
NM_000528.4(MAN2B1):c.1251G>A (p.Ala417=)
NM_000528.4(MAN2B1):c.1252C>T (p.Leu418=)
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856
NM_000528.4(MAN2B1):c.1269C>T (p.Ala423=)
NM_000528.4(MAN2B1):c.1272C>T (p.Asn424=)
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.1278A>T (p.Gly426=) rs950266158
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=)
NM_000528.4(MAN2B1):c.1308_1309+2del rs1555708282
NM_000528.4(MAN2B1):c.1309+10G>A rs1424931652
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392
NM_000528.4(MAN2B1):c.1310-7T>C
NM_000528.4(MAN2B1):c.1310-9T>C
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=)
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr) rs864621983
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr) rs864621984
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu) rs864621985
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=)
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
NM_000528.4(MAN2B1):c.1419+16C>A
NM_000528.4(MAN2B1):c.1419+5G>T
NM_000528.4(MAN2B1):c.1419+7G>C
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154
NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=)
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1443G>A (p.Ala481=)
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
NM_000528.4(MAN2B1):c.1467C>T (p.His489=)
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1509C>T (p.Leu503=)
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=) rs754672974
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1527+7C>T
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-5C>T
NM_000528.4(MAN2B1):c.1528-8C>T
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=) rs768096085
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.159+9G>A rs764391534
NM_000528.4(MAN2B1):c.1590C>T (p.Val530=)
NM_000528.4(MAN2B1):c.1593C>T (p.Ser531=)
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)
NM_000528.4(MAN2B1):c.160-5T>C
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=)
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=) rs1295503998
NM_000528.4(MAN2B1):c.1644+4A>G
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696
NM_000528.4(MAN2B1):c.1645-3G>A
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1659C>T (p.Pro553=) rs1376701673
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=)
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro) rs864621986
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=)
NM_000528.4(MAN2B1):c.1704C>T (p.Ala568=)
NM_000528.4(MAN2B1):c.1708C>T (p.Leu570=)
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586
NM_000528.4(MAN2B1):c.1716C>T (p.Ala572=)
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=)
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=)
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=)
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=)
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=)
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678
NM_000528.4(MAN2B1):c.1831-5C>T
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=)
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=) rs753652903
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=)
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=)
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=)
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457
NM_000528.4(MAN2B1):c.1929-2A>G
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=)
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=)
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=)
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=)
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495
NM_000528.4(MAN2B1):c.2046+6G>T
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=)
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile) rs561720564
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
NM_000528.4(MAN2B1):c.2107C>T (p.Leu703=)
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=)
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
NM_000528.4(MAN2B1):c.2154G>C (p.Pro718=)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2165+8G>A
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=)
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=)
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=)
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=) rs1599341929
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.4(MAN2B1):c.2226C>T (p.Arg742=)
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=)
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg) rs864621987
NM_000528.4(MAN2B1):c.2247C>T (p.Gly749=)
NM_000528.4(MAN2B1):c.2248C>A (p.Arg750=)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu) rs938995975
NM_000528.4(MAN2B1):c.2250G>A (p.Arg750=)
NM_000528.4(MAN2B1):c.2253G>A (p.Glu751=)
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914
NM_000528.4(MAN2B1):c.2267+8G>T rs1599341786
NM_000528.4(MAN2B1):c.2267+9T>C
NM_000528.4(MAN2B1):c.2268-11C>T
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-2A>T
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081
NM_000528.4(MAN2B1):c.228C>T (p.Gly76=)
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=)
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=)
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2356-4C>A
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=)
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp) rs398123456
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=)
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457
NM_000528.4(MAN2B1):c.2436+7G>C
NM_000528.4(MAN2B1):c.2436+8G>C
NM_000528.4(MAN2B1):c.2436+8G>T
NM_000528.4(MAN2B1):c.2437-10C>T
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2437-4C>G rs772778684
NM_000528.4(MAN2B1):c.2437-5C>A rs200695002
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2437-6C>T
NM_000528.4(MAN2B1):c.2437-8C>A rs1599339769
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=)
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Leu829_Met830insLysPro) rs1555706406
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=)
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)
NM_000528.4(MAN2B1):c.2499G>A (p.Gly833=)
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
NM_000528.4(MAN2B1):c.2502G>A (p.Ser834=)
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=)
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
NM_000528.4(MAN2B1):c.2535G>A (p.Leu845=)
NM_000528.4(MAN2B1):c.2547C>G (p.Ala849=)
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=)
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=)
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=)
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=)
NM_000528.4(MAN2B1):c.2580G>C (p.Ala860=)
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=)
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=)
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479
NM_000528.4(MAN2B1):c.2619G>C (p.Pro873=)
NM_000528.4(MAN2B1):c.262+10G>A
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616
NM_000528.4(MAN2B1):c.263-10T>C
NM_000528.4(MAN2B1):c.263-4A>C
NM_000528.4(MAN2B1):c.263-7T>C
NM_000528.4(MAN2B1):c.263-8A>G rs1463660136
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=) rs763786776
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=)
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=)
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=) rs556554403
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225
NM_000528.4(MAN2B1):c.2665-165G>C
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2665-4G>A rs1461826298
NM_000528.4(MAN2B1):c.2665-5C>T
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000528.4(MAN2B1):c.2671G>A (p.Gly891Arg) rs864621988
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro) rs864621989
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=)
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=) rs150866794
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2782G>A (p.Gly928Arg)
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2784A>C (p.Gly928=)
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=)
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=)
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=)
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2820+10G>A
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132
NM_000528.4(MAN2B1):c.2821-5C>T rs761870446
NM_000528.4(MAN2B1):c.2821-9T>C
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro) rs754036398
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
NM_000528.4(MAN2B1):c.285C>G (p.Ala95=)
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248
NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=)
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=)
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=)
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.2923+9C>T
NM_000528.4(MAN2B1):c.2924-4C>T
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=)
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=)
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=) rs369658144
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=)
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=)
NM_000528.4(MAN2B1):c.306C>T (p.Asp102=)
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=) rs1175779934
NM_000528.4(MAN2B1):c.30C>G (p.Val10=)
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=)
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=)
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=) rs756417972
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=) rs1599361566
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
NM_000528.4(MAN2B1):c.354C>T (p.Tyr118=)
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)
NM_000528.4(MAN2B1):c.366C>G (p.Ala122=)
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.414C>T (p.Val138=)
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
NM_000528.4(MAN2B1):c.436+7C>T
NM_000528.4(MAN2B1):c.437-1dup
NM_000528.4(MAN2B1):c.437-6G>A
NM_000528.4(MAN2B1):c.437-8T>C
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=) rs794727626
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.450C>T (p.Phe150=)
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=)
NM_000528.4(MAN2B1):c.525G>A (p.Gly175=)
NM_000528.4(MAN2B1):c.526C>T (p.Leu176=)
NM_000528.4(MAN2B1):c.531C>A (p.Arg177=)
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=)
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=)
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=)
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
NM_000528.4(MAN2B1):c.630+12G>C rs368271384
NM_000528.4(MAN2B1):c.630+6A>T
NM_000528.4(MAN2B1):c.630+9C>T
NM_000528.4(MAN2B1):c.631-9C>T
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=) rs755806804
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=)
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.763+9C>T
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=)
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=)
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=)
NM_000528.4(MAN2B1):c.864C>T (p.Asn288=) rs146909343
NM_000528.4(MAN2B1):c.867C>T (p.Ala289=)
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=)
NM_000528.4(MAN2B1):c.879C>T (p.Val293=)
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=)
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=) rs749372996
NM_000528.4(MAN2B1):c.909+9G>A
NM_000528.4(MAN2B1):c.910-73A>G rs2303731
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=)
NM_000528.4(MAN2B1):c.915G>T (p.Arg305=) rs755994517
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=) rs35087690
NM_000528.4(MAN2B1):c.927C>T (p.Thr309=) rs759023914
NM_000528.4(MAN2B1):c.933C>T (p.His311=) rs760393236
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
NM_000528.4(MAN2B1):c.953C>T (p.Ser318Leu) rs774034389
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325
NM_001173498.1(MAN2B1):c.-73G>T rs544325509

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.