ClinVar Miner

List of variants in gene IGHMBP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_002180.3(IGHMBP2):c.*255T>C rs564244 0.75917
NM_002180.3(IGHMBP2):c.1756+119C>G rs598255 0.75913
NM_002180.3(IGHMBP2):c.2785-243C>T rs665258 0.47225
NM_002180.3(IGHMBP2):c.2784+114T>G rs488792 0.47111
NM_002180.3(IGHMBP2):c.548-274C>T rs583182 0.30584
NM_002180.3(IGHMBP2):c.2784+54G>A rs4378405 0.26445
NM_002180.3(IGHMBP2):c.548-190G>T rs673821 0.24256
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_002180.3(IGHMBP2):c.2612-123C>T rs3794031 0.22881
NM_002180.3(IGHMBP2):c.257-101G>C rs61887150 0.22424
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_002180.3(IGHMBP2):c.87-268A>T rs61887149 0.22321
NM_002180.3(IGHMBP2):c.2612-146G>T rs513615 0.22315
NM_002180.3(IGHMBP2):c.1419-145C>T rs2282504 0.22161
NM_002180.3(IGHMBP2):c.913-313G>A rs3829243 0.20672
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.712-287G>A rs12418618 0.18804
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_002180.3(IGHMBP2):c.712-298T>G rs12420058 0.17587
NM_002180.3(IGHMBP2):c.450-72G>T rs10896378 0.17151
NM_002180.3(IGHMBP2):c.1235+148A>G rs79051613 0.06749
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_002180.3(IGHMBP2):c.86+240C>T rs73522953 0.04810
NM_002180.3(IGHMBP2):c.912+236A>G rs144764889 0.04042
NM_002180.3(IGHMBP2):c.257-116C>T rs508049 0.04026
NM_002180.3(IGHMBP2):c.2784+111C>A rs79957506 0.02045
NM_002180.3(IGHMBP2):c.257-279T>C rs142133560 0.01916
NM_002180.3(IGHMBP2):c.2611+239C>T rs73527341 0.01856
NM_002180.3(IGHMBP2):c.2611+299C>T rs77729566 0.01637
NM_002180.3(IGHMBP2):c.712-172C>T rs115395569 0.01546
NM_002180.3(IGHMBP2):c.1757-149C>T rs58975356 0.01447
NM_002180.3(IGHMBP2):c.2611+273G>C rs145953567 0.01324
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_002180.3(IGHMBP2):c.87-160G>A rs653502 0.01073
NM_002180.3(IGHMBP2):c.450-80T>C rs511745 0.01069
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_002180.3(IGHMBP2):c.86+282A>G rs142921345 0.00915
NM_002180.3(IGHMBP2):c.1235+38C>T rs150602837 0.00863
NM_002180.3(IGHMBP2):c.257-151T>A rs563254693 0.00821
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_002180.3(IGHMBP2):c.547+271G>A rs181065588 0.00684
NM_002180.3(IGHMBP2):c.1235+108C>T rs140099252 0.00640
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002180.3(IGHMBP2):c.912+259C>T rs183080759 0.00586
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_002180.3(IGHMBP2):c.2611+288C>T rs116133607 0.00524
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_002180.3(IGHMBP2):c.548-223C>T rs149249976 0.00475
NM_002180.3(IGHMBP2):c.2785-39C>A rs181098758 0.00438
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_002180.3(IGHMBP2):c.2611+258G>C rs115820846 0.00405
NM_002180.3(IGHMBP2):c.1235+950C>T rs78442728 0.00398
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_002180.3(IGHMBP2):c.912+144T>C rs867263911 0.00343
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205 0.00220
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.1633-59A>C rs535705918 0.00140
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_002180.3(IGHMBP2):c.*3G>A rs372949830 0.00121
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031 0.00119
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002180.3(IGHMBP2):c.*6C>T rs117995705 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) rs144681826 0.00044
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) rs146266992 0.00028
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) rs138327042 0.00025
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949 0.00011
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559 0.00010
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2612-13G>A rs369494910 0.00009
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709 0.00007
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 0.00006
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.1235+7C>T rs776813722 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=) rs748530497 0.00003
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.208A>G (p.Arg70Gly) rs563922049 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.*4G>A rs1555248762 0.00001
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1374T>C (p.Leu458=) rs1380556705 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) rs201964221 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.1849G>A (p.Val617Ile) rs756289160 0.00001
NM_002180.3(IGHMBP2):c.1873A>G (p.Thr625Ala) rs779184327 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015 0.00001
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002180.3(IGHMBP2):c.555G>A (p.Leu185=) rs1176973229 0.00001
NM_002180.3(IGHMBP2):c.623A>G (p.Glu208Gly) rs369139106 0.00001
NM_002180.3(IGHMBP2):c.657G>T (p.Gly219=) rs879254002 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.905A>G (p.Gln302Arg) rs748286001 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
GRCh37/hg19 11q13.3(chr11:68682291-68682491)x1
NC_000011.10:g.68903846del
NM_002180.3(IGHMBP2):c.*648G>A rs139118510
NM_002180.3(IGHMBP2):c.-5C>T rs765237978
NM_002180.3(IGHMBP2):c.1060+2T>C rs879253886
NM_002180.3(IGHMBP2):c.1060+35C>G rs374155757
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002180.3(IGHMBP2):c.1235+450G>A
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1236-66G>C rs645436
NM_002180.3(IGHMBP2):c.1281T>C (p.Ala427=)
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.136T>G (p.Cys46Gly)
NM_002180.3(IGHMBP2):c.1393T>C (p.Ser465Pro)
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1456G>A (p.Val486Met) rs374456063
NM_002180.3(IGHMBP2):c.1465C>T (p.Leu489Phe) rs1365833591
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1511A>G (p.Glu504Gly)
NM_002180.3(IGHMBP2):c.1660C>T (p.His554Tyr) rs1859481722
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1756+133T>C rs2154008783
NM_002180.3(IGHMBP2):c.1789A>T (p.Ile597Phe) rs879253997
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.1841C>T (p.Ser614Phe)
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=) rs768631087
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1917del (p.Phe640fs)
NM_002180.3(IGHMBP2):c.1962G>A (p.Glu654=)
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) rs1859531837
NM_002180.3(IGHMBP2):c.2008G>T (p.Ala670Ser) rs1859533403
NM_002180.3(IGHMBP2):c.2039del (p.Gln680fs) rs2154008855
NM_002180.3(IGHMBP2):c.2069C>G (p.Ala690Gly) rs2154008863
NM_002180.3(IGHMBP2):c.2125C>T (p.Gln709Ter) rs2154008868
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) rs886042313
NM_002180.3(IGHMBP2):c.2230T>A (p.Leu744Met) rs2154008875
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2344G>A (p.Val782Met) rs1057523857
NM_002180.3(IGHMBP2):c.2354G>A (p.Arg785Lys)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) rs757779436
NM_002180.3(IGHMBP2):c.2429C>T (p.Pro810Leu) rs876661213
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys) rs1566447207
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
NM_002180.3(IGHMBP2):c.2458A>G (p.Arg820Gly) rs1566447241
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2569G>A (p.Gly857Arg) rs1376066801
NM_002180.3(IGHMBP2):c.257-132dup rs34242855
NM_002180.3(IGHMBP2):c.2573A>G (p.Gln858Arg) rs571303275
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.3(IGHMBP2):c.2604A>C (p.Lys868Asn)
NM_002180.3(IGHMBP2):c.2606C>T (p.Ala869Val)
NM_002180.3(IGHMBP2):c.2609A>C (p.Lys870Thr) rs2154008963
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.2719A>T (p.Thr907Ser)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2785-154G>A rs569777
NM_002180.3(IGHMBP2):c.2785-67A>G rs568862
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) rs1131691657
NM_002180.3(IGHMBP2):c.305C>A (p.Ala102Asp)
NM_002180.3(IGHMBP2):c.305C>T (p.Ala102Val)
NM_002180.3(IGHMBP2):c.323G>A (p.Arg108Gln)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) rs1858294034
NM_002180.3(IGHMBP2):c.547+226_547+227dup rs770866695
NM_002180.3(IGHMBP2):c.547+227del rs770866695
NM_002180.3(IGHMBP2):c.547+227dup rs770866695
NM_002180.3(IGHMBP2):c.548-80dup rs529782776
NM_002180.3(IGHMBP2):c.549C>A (p.His183Gln)
NM_002180.3(IGHMBP2):c.575T>A (p.Leu192Gln) rs879253996
NM_002180.3(IGHMBP2):c.587A>G (p.Gln196Arg) rs1594422506
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.647C>A (p.Pro216His) rs1594422676
NM_002180.3(IGHMBP2):c.66C>G (p.Asp22Glu)
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.3(IGHMBP2):c.711+164C>T
NM_002180.3(IGHMBP2):c.712-588C>T
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.912+3A>G rs1555244128
NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser) rs1470463698
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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