ClinVar Miner

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

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.2784+1G>T rs797044803 0.00002
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) rs754681347 0.00002
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) rs1161757831 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.1235+1076G>A rs762272501 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) rs1859413172
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) rs1594451999
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del) rs775542203
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) rs1858185704
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.238A>G (p.Ser80Gly) rs1594415592
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) rs1859566434
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) rs763406969
NM_002180.3(IGHMBP2):c.2612-3C>T rs1859624455
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) rs1594458354
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) rs1594458412
NM_002180.3(IGHMBP2):c.2770C>T (p.His924Tyr) rs1594458556
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.2970_2982del (p.Glu990fs) rs1392401882
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) rs147001168
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) rs1858294034
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) rs778232785
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.983_984del (p.Lys328fs) rs1594431701
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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