List of variants in gene IGHMBP2 studied for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 446

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HGVS	dbSNP
NC_000011.10:g.(?_68908125)_(68908651_?)del
NM_002180.2(IGHMBP2):c.*3G>A	rs372949830
NM_002180.2(IGHMBP2):c.*6C>T	rs117995705
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)	rs1594431740
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe)	rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)	rs750580259
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=)	rs779452908
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)	rs567322475
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val)	rs199586231
NM_002180.2(IGHMBP2):c.1060+10C>T	rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T	rs201147313
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)	rs886043773
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val)	rs142062146
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)	rs201060167
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)	rs759014082
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=)	rs148157556
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr)	rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn)	rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)	rs770912338
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)	rs724159959
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)	rs374845226
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr)	rs1193634362
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=)	rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=)	rs145314949
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val)	rs876661217
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)	rs759641927
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val)	rs35193202
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=)	rs377631839
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn)	rs779654686
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg)	rs1566439723
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg)	rs1555246489
NM_002180.2(IGHMBP2):c.1235+894C>A	rs1202430946
NM_002180.2(IGHMBP2):c.1236-10C>T	rs778515935
NM_002180.2(IGHMBP2):c.1236-6G>A	rs201538340
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val)	rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)	rs749343954
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)	rs1303837541
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His)	rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg)	rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)	rs1594451196
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)	rs1021399630
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=)	rs140654955
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)	rs377460631
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr)	rs116012780
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val)	rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)	rs1464006744
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs)	rs1566443170
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)	rs751549678
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=)	rs78807992
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)	rs372181708
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly)	rs144240271
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val)	rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)	rs374363750
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro)	rs775232759
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)	rs755120725
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)	rs755120725
NM_002180.2(IGHMBP2):c.1418+11C>T	rs201279838
NM_002180.2(IGHMBP2):c.1418+18A>G	rs112575423
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)	rs1594451539
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu)	rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg)	rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)	rs1170552394
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)	rs780594709
NM_002180.2(IGHMBP2):c.1482C>T (p.Ala494=)	rs773180915
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp)	rs764111837
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=)	rs538496164
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)	rs556292818
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)	rs117061430
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu)	rs754465226
NM_002180.2(IGHMBP2):c.1538-20C>T	rs147148090
NM_002180.2(IGHMBP2):c.1538-8C>G	rs115320302
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)	rs137852665
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys)	rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu)	rs926718557
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=)	rs150549628
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)	rs373828321
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr)	rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg)	rs1555247556
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=)	rs149736203
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr)	rs724159960
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)	rs756985703
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=)	rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val)	rs140221316
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu)	rs879253887
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)	rs772592429
NM_002180.2(IGHMBP2):c.1632+4C>T	rs775832239
NM_002180.2(IGHMBP2):c.1633-2A>G	rs1566445029
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala)	rs1566445036
NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter)	rs1479493690
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His)	rs201692151
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala)	rs7122089
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser)	rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys)	rs201649839
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs)	rs1555247732
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu)	rs1566445093
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)	rs770111639
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)	rs1000091588
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del)	rs775542203
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly)	rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)	rs748775914
NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro)	rs1483165002
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys)	rs1566445212
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)	rs137852667
NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg)	rs146450269
NM_002180.2(IGHMBP2):c.1756+4C>T	rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val)	rs764900781
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=)	rs138997061
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)	rs143766075
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)	rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)	rs991227431
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln)	rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg)	rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)	rs1057518943
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=)	rs34658653
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met)	rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu)	rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)	rs776775995
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=)	rs541245852
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)	rs752495359
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys)	rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His)	rs201640213
NM_002180.2(IGHMBP2):c.1845T>A (p.Arg615=)	rs370850999
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=)	rs1164401206
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu)	rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)	rs1594455594
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met)	rs747465472
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=)	rs769397483
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn)	rs775138577
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=)	rs1555247978
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile)	rs77822399
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)	rs755082503
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)	rs1310268610
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=)	rs1308205831
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala)	rs622082
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)	rs377743886
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=)	rs138396245
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg)	rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)	rs371157210
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp)	rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu)	rs77807333
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=)	rs113615425
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)	rs372382180
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)	rs1594456094
NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg)	rs879254320
NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=)	rs199879444
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg)	rs1191974842
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=)	rs774145467
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)	rs773046519
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met)	rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg)	rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val)	rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)	rs1594456265
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=)	rs139237340
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr)	rs2228206
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn)	rs200499838
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=)	rs149684358
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln)	rs149185954
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=)	rs149185954
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=)	rs546382
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)	rs754559345
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=)	rs11228414
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=)	rs147954772
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu)	rs141594765
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)	rs199839840
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)	rs773242930
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln)	rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)	rs1438075631
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)	rs1594415592
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser)	rs751122806
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=)	rs624147
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln)	rs950453484
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys)	rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=)	rs371840404
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)	rs371546836
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=)	rs2228207
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)	rs2228207
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr)	rs2228208
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=)	rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln)	rs202143060
NM_002180.2(IGHMBP2):c.256+9G>A	rs118015540
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)	rs1300949116
NM_002180.2(IGHMBP2):c.257-2A>G	rs1566424655
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)	rs1373247548
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)	rs1594417834
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs)	rs886043774
NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs)	rs754422011
NM_002180.2(IGHMBP2):c.2611+1G>T	rs786205090
NM_002180.2(IGHMBP2):c.2611+7C>T	rs1343219004
NM_002180.2(IGHMBP2):c.2612-14C>T	rs200940488
NM_002180.2(IGHMBP2):c.2612-15G>A	rs372230504
NM_002180.2(IGHMBP2):c.2612-16C>T	rs200337900
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu)	rs141903179
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=)	rs373001247
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu)	rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)	rs772539742
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr)	rs138607722
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile)	rs199614709
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu)	rs201970407
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=)	rs1566448372
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=)	rs146286133
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)	rs772387164
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=)	rs779293148
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=)	rs139416105
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)	rs199962477
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His)	rs368584364
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser)	rs145945230
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=)	rs146217031
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)	rs1594458556
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro)	rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)	rs200897747
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys)	rs2275996
NM_002180.2(IGHMBP2):c.2784+1G>T	rs797044803
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=)	rs139926138
NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr)	rs757839224
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)	rs373408947
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp)	rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)	rs149824485
NM_002180.2(IGHMBP2):c.2844G>A (p.Gly948=)	rs147918962
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)	rs759627672
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser)	rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)	rs764208218
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu)	rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)	rs760004229
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp)	rs141873613
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg)	rs199574747
NM_002180.2(IGHMBP2):c.2883G>A (p.Leu961=)	rs3750977
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys)	rs1471799706
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu)	rs147674615
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)	rs1440519538
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)	rs1392401882
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=)	rs755792559
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met)	rs777591006
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=)	rs201760315
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)	rs886037759
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser)	rs35610053
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)	rs767244307
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)	rs750026880
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met)	rs181657861
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)	rs1034569953
NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe)	rs2228205
NM_002180.2(IGHMBP2):c.366C>T (p.His122=)	rs144401213
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg)	rs775782198
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)	rs150123428
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)	rs761440964
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)	rs1324667543
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)	rs138448914
NM_002180.2(IGHMBP2):c.449+1G>A	rs797044802
NM_002180.2(IGHMBP2):c.449+1G>T	rs797044802
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser)	rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)	rs1566425176
NM_002180.2(IGHMBP2):c.547+1G>A	rs1057518588
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr)	rs548256623
NM_002180.2(IGHMBP2):c.548-10T>G	rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T	rs368802434
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)	rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)	rs137852666
NM_002180.2(IGHMBP2):c.639T>C (p.His213=)	rs764495455
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala)	rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)	rs771853806
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg)	rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)	rs1594422735
NM_002180.2(IGHMBP2):c.711+8G>A	rs1403938196
NM_002180.2(IGHMBP2):c.714T>C (p.Val238=)	rs755582766
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=)	rs76690064
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser)	rs1555243999
NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val)	rs377678376
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=)	rs76707931
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys)	rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His)	rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly)	rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)	rs777575504
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)	rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)	rs751910797
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys)	rs201054207
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro)	rs773582904
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter)	rs1566430156
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg)	rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp)	rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)	rs892885630
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=)	rs147409148
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp)	rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln)	rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)	rs768803582
NM_002180.2(IGHMBP2):c.87-19A>G	rs183650590
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile)	rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn)	rs139635469
NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu)	rs200079527
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)	rs747287368
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=)	rs1482496537
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter)	rs773690764
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)	rs1594431701
NM_002180.3(IGHMBP2):c.*18C>T
NM_002180.3(IGHMBP2):c.-2C>T	rs4930624
NM_002180.3(IGHMBP2):c.1061-19G>A
NM_002180.3(IGHMBP2):c.1061-1G>C
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=)	rs1161757831
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)	rs201485072
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=)	rs756733490
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
NM_002180.3(IGHMBP2):c.1235+1076G>A	rs762272501
NM_002180.3(IGHMBP2):c.1235+511T>C
NM_002180.3(IGHMBP2):c.1235+519C>T
NM_002180.3(IGHMBP2):c.1236-1G>T
NM_002180.3(IGHMBP2):c.1236-5C>T	rs191443556
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	rs200089714
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	rs1594415353
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs)	rs1594451999
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)	rs370367228
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.1537+9G>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
NM_002180.3(IGHMBP2):c.1538-19G>A
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)	rs11228413
NM_002180.3(IGHMBP2):c.1586_1587GT[3] (p.Pro531fs)	rs1594453023
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)	rs746241618
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)	rs34617762
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)	rs1413846126
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)	rs2236654
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	rs750994603
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)	rs761789207
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=)	rs1594415602
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu)	rs200072932
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)	rs746248057
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
NM_002180.3(IGHMBP2):c.256+7G>A	rs1312545588
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2611+1G>A
NM_002180.3(IGHMBP2):c.2612-3C>T
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	rs17612126
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro)	rs1594458354
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2773del (p.His925fs)	rs1594458566
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro)	rs1594458574
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)	rs1594459783
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)	rs145631247
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)	rs724159994
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=)	rs150937080
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=)	rs1594418098
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
NM_002180.3(IGHMBP2):c.548-19G>A
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)	rs1249463
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)	rs780802298
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)	rs560096
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)	rs201112136
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=)	rs770943023
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)	rs10896380
NM_002180.3(IGHMBP2):c.86+7G>C	rs527948004
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)	rs746581714
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=)	rs1594431729
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)

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