ClinVar Miner

List of variants studied for Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S by Invitae

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ClinVar version:
Total variants: 461
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HGVS dbSNP
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.9:g.(?_68671411)_(68707209_?)del
NC_000011.9:g.(?_68682281)_(68682501_?)del
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.1071C>T (p.Ala357=) rs755300047
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.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.1144G>A (p.Glu382Lys) rs776730737
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.1194G>A (p.Ala398=) rs745534850
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.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1236-10C>T rs778515935
NM_002180.2(IGHMBP2):c.1236-6G>C 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.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.1398C>T (p.Ser466=) rs147477786
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.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.1538-8C>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.1591C>A (p.Pro531Thr) rs756985703
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.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1749C>T (p.Asn583=) rs922075405
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.1817G>A (p.Arg606His) rs1240319744
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.1909C>T (p.Arg637Cys) rs201563456
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.2012C>T (p.Thr671Met) rs377743886
NM_002180.2(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439
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.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.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.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
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.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193
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.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.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.2856C>T (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.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.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.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.57_58inv (p.Glu20Lys)
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+1G>C rs774079947
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.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.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_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr)
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn)
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu)
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe)
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=)
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.1213C>T (p.Pro405Ser)
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
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.1296G>A (p.Ala432=)
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.1344C>T (p.Ile448=)
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=)
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg)
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.1669C>A (p.Pro557Thr)
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1757-6T>C rs1594455341
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp)
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr)
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly)
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys)
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn)
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr)
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln)
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=)
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.2188C>T (p.Arg730Trp)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg)
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.2292G>A (p.Glu764=)
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.2374G>A (p.Ala792Thr)
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser)
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser)
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.2460_2474dup (p.Glu821_Pro825dup)
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=)
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588
NM_002180.3(IGHMBP2):c.256+8C>T
NM_002180.3(IGHMBP2):c.257-4G>A
NM_002180.3(IGHMBP2):c.257-5T>C
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2611+1G>A
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg)
NM_002180.3(IGHMBP2):c.2612-4C>T
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met)
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr)
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr)
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=)
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.2776C>T (p.Leu926=)
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.2816A>G (p.His939Arg)
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val)
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys)
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=)
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys)
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) rs761315649
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr)
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His)
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val)
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr)
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr)
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys)
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=)
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val)
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala)
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.763_767del (p.Leu255fs)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His)
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile)
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.913-6T>A
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.951T>C (p.Ser317=)
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala)
NM_002180.3(IGHMBP2):c.983_987del (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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