ClinVar Miner

List of variants in gene IGHMBP2 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00003
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) rs139497493 0.00003
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00002
NM_002180.3(IGHMBP2):c.2784+1G>T rs797044803 0.00002
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter) rs564145037 0.00002
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1061-2A>G rs1424522130 0.00001
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) rs760811074 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) rs773543257 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter) rs1859672389 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.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_002180.3(IGHMBP2):c.711+1G>C rs774079947 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NC_000011.9:g.(?_68671411)_(68707209_?)del
NC_000011.9:g.(?_68671421)_(68679091_?)del
NC_000011.9:g.(?_68673517)_(68682511_?)del
NC_000011.9:g.(?_68682271)_(68682511_?)del
NC_000011.9:g.(?_68682271)_(68685371_?)del
NC_000011.9:g.(?_68696631)_(68707199_?)del
NC_000011.9:g.(?_68696951)_(68704375_?)del
NC_000011.9:g.(?_68701912)_(68707199_?)del
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs) rs2496033440
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs) rs2496034612
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs) rs1594445698
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs) rs780692442
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs) rs2496034725
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs) rs1177963598
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs) rs777570288
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs) rs1285416231
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs) rs2496054182
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) rs2154008651
NM_002180.3(IGHMBP2):c.1480del (p.Ala494fs)
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs) rs2496065853
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs) rs1311146809
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) rs1483165002
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs) rs2496070562
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs) rs2496070621
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs) rs1298787017
NM_002180.3(IGHMBP2):c.1952_1953del (p.Tyr651fs)
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs) rs1859531540
NM_002180.3(IGHMBP2):c.2003del (p.Gly668fs)
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) rs755468547
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs) rs1594456890
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs) rs2496076667
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter) rs2154008953
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.2599A>T (p.Lys867Ter) rs753639706
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs) rs767088664
NM_002180.3(IGHMBP2):c.2611+1G>A rs786205090
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) rs2154009273
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs) rs2495949807
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs) rs2496086381
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs) rs2496086694
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.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs) rs2495950095
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) rs1015531394
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs) rs767630646
NM_002180.3(IGHMBP2):c.449+1G>A rs797044802
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs) rs2154006724
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer) rs2495952128
NM_002180.3(IGHMBP2):c.52del (p.Glu18fs)
NM_002180.3(IGHMBP2):c.541G>T (p.Glu181Ter)
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs) rs2495964905
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.673del (p.Val225fs) rs1858438320
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter) rs1555243325
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs) rs2154006948
NM_002180.3(IGHMBP2):c.711+1G>A rs774079947
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs) rs2154007211
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) rs1594427564
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.797del (p.Gly266fs) rs2495981397
NM_002180.3(IGHMBP2):c.803del (p.Pro268fs)
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs) rs2495982356
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) rs863224880
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer) rs2495994026
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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