ClinVar Miner

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

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ClinVar version:
Total variants: 141
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HGVS dbSNP
NC_012920.1:m.9185T>C rs199476138
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.576del (p.Phe193fs) rs1602349692
NM_000166.6(GJB1):c.629_632del (p.Val210fs) rs1602349779
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.785_786del (p.Ile262fs) rs1602349962
NM_000166.6(GJB1):c.800del (p.Pro267fs) rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
NM_000304.4(PMP22):c.76del (p.Ser26fs) rs1597635540
NM_000371.3(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.560del (p.Gln187fs) rs1571817966
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) rs1571817911
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.68-5_71del rs1571820401
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) rs1583964560
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.505del (p.Met169fs) rs1583966508
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_006096.3(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014874.3(MFN2):c.1392+1G>A rs1569861708
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) rs1474390668
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.928del (p.Arg310fs) rs1586807541
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.124_125dup (p.Phe43fs) rs1599662837
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.688del (p.Val230fs) rs775740308
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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