ClinVar Miner

List of variants in gene IGHMBP2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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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.1757-18C>A rs77247855 0.00796
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.1633-59A>C rs535705918 0.00140
NM_002180.3(IGHMBP2):c.-28C>A rs117368938 0.00135
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.2322A>G (p.Glu774=) rs11228414 0.00085
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.1418+11C>T rs201279838 0.00071
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.-30G>C rs369459369 0.00044
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.-25C>T rs780273172 0.00034
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.366C>T (p.His122=) rs144401213 0.00019
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.2612-16C>T rs200337900 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.1143C>T (p.Leu381=) rs145314949 0.00011
NM_002180.3(IGHMBP2):c.2612-14C>T rs200940488 0.00011
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 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.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915 0.00008
NM_002180.3(IGHMBP2):c.1633-14G>A rs368126775 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.548-20C>T rs368802434 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.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 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.761G>A (p.Arg254His) rs761191746 0.00005
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.1749C>T (p.Asn583=) rs922075405 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
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.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483 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.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.208A>G (p.Arg70Gly) rs563922049 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=) rs35995205 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 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.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1756+13C>T rs568649635 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.1849G>A (p.Val617Ile) rs756289160 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 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.2397C>T (p.Thr799=) rs763818374 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) rs1057524376 0.00001
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404 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.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=) rs747166731 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 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.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.954T>C (p.Asn318=) rs1482496537 0.00001
NC_000011.10:g.68903846del
NM_002180.3(IGHMBP2):c.-14G>C rs1555241810
NM_002180.3(IGHMBP2):c.-34C>G rs199806263
NM_002180.3(IGHMBP2):c.-49G>C rs771526347
NM_002180.3(IGHMBP2):c.1060+2T>C rs879253886
NM_002180.3(IGHMBP2):c.1060+35C>G rs374155757
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.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
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.1511A>G (p.Glu504Gly)
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=) rs747627986
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.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.184C>A (p.Arg62=) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) rs1555247971
NM_002180.3(IGHMBP2):c.2039del (p.Gln680fs) rs2154008855
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2145C>T (p.Gly715=) rs1032533532
NM_002180.3(IGHMBP2):c.2230T>A (p.Leu744Met) rs2154008875
NM_002180.3(IGHMBP2):c.2344G>A (p.Val782Met) rs1057523857
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.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
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.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.273G>C (p.Leu91=) rs772280279
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2785-154G>A rs569777
NM_002180.3(IGHMBP2):c.2785-67A>G rs568862
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.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.548-19G>T rs1052895374
NM_002180.3(IGHMBP2):c.548-80dup rs529782776
NM_002180.3(IGHMBP2):c.575T>A (p.Leu192Gln) rs879253996
NM_002180.3(IGHMBP2):c.672G>A (p.Val224=) rs1555243316
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.912+3A>G rs1555244128
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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