ClinVar Miner

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

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Total variants: 159
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.*3G>A rs372949830
NM_002180.2(IGHMBP2):c.*6C>T rs117995705
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
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.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338
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.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
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.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1418+11C>T rs201279838
NM_002180.2(IGHMBP2):c.1418+18A>G rs112575423
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
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.1551C>T (p.Leu517=) rs150549628
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.165G>C (p.Gln55His) rs201692151
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.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
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.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
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.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.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.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
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.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116
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.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr) rs1594458556
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.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs) rs1392401882
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
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.440G>A (p.Arg147Gln) rs138448914
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T rs368802434
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
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.741C>T (p.Ala247=) rs76707931
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
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.87-19A>G rs183650590
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527
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.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.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.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.1605T>G (p.Ile535Met)
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.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.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
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.273G>T (p.Leu91=)
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.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
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.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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