ClinVar Miner

List of variants in gene IGHMBP2 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP
NC_000011.9:g.(?_68675593)_(68676119_?)del
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
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.1036A>G (p.Asn346Asp)
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
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)
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.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.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
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)
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
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)
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
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.1523C>T (p.Ser508Leu) rs754465226
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.1552G>A (p.Val518Ile)
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.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
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.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.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
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.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
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.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
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.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
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.1966T>C (p.Ser656Pro)
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
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.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.2097G>T (p.Gly699=)
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
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=)
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)
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
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.2317G>A (p.Gly773Arg) rs754559345
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)
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
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.2561A>G (p.Gln854Arg)
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)
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.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
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.2822G>A (p.Arg941Gln)
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.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.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
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.350C>T (p.Ala117Val)
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
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)
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
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)
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
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.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)
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.928A>T (p.Thr310Ser) rs747287368
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)

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