ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory,London Health Sciences Centre

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Total variants: 61
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HGVS dbSNP
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.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.433del (p.Leu145fs) rs1567698872
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_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs) rs0
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.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_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) rs0
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
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) rs0
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_014845.6(FIG4):c.1801del (p.Thr601fs) rs0
NM_014845.6(FIG4):c.2247dup (p.Ser750fs) rs0
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_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) rs0
NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs) rs0
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) rs0
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg) rs0
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs) rs0
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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