ClinVar Miner

List of variants in gene MAN2B1 studied for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP
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+251T>C rs8108316
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1109+3A>G rs794727905
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999
NM_000528.4(MAN2B1):c.1223T>A (p.Phe408Tyr) rs398123452
NM_000528.4(MAN2B1):c.1224C>A (p.Phe408Leu) rs398123453
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824
NM_000528.4(MAN2B1):c.1231-5T>A rs1419185296
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.1309+10G>A rs1424931652
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
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.1587G>T (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)
NM_000528.4(MAN2B1):c.1722C>T (p.Gly574=) rs1599348302
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile) rs181476648
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643
NM_000528.4(MAN2B1):c.1830+138C>T rs8107642
NM_000528.4(MAN2B1):c.1831-158T>G rs4804205
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=) rs753652903
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2046+184A>G rs17476839
NM_000528.4(MAN2B1):c.2127C>T (p.His709=) rs1187915902
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.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+216A>G rs8102193
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.2310C>T (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.2311G>A (p.Val771Met) rs140843669
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser) rs1599340883
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457
NM_000528.4(MAN2B1):c.2437-5C>A rs200695002
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.2664+9C>T rs1485817124
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=) rs150866794
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=) rs1599338014
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.2968A>G (p.Ile990Val) rs1555705869
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=) rs1175779934
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=) rs756417972
NM_000528.4(MAN2B1):c.355G>C (p.Val119Leu) rs201140883
NM_000528.4(MAN2B1):c.368TCT[1] (p.Phe124del) rs398123458
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=) rs537304777
NM_000528.4(MAN2B1):c.444G>A (p.Leu148=) rs794727626
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=) rs794727626
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.630+10G>T rs1200800972
NM_000528.4(MAN2B1):c.630+29C>T rs144337367
NM_000528.4(MAN2B1):c.631-213C>T rs8104821
NM_000528.4(MAN2B1):c.687G>A (p.Arg229=) rs1599357346
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136
NM_000528.4(MAN2B1):c.910-73A>G rs2303731
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
Single allele

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