ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by GeneReviews

Included ClinVar conditions (130):
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ClinVar version:
Total variants: 150
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HGVS dbSNP
NC_012920.1:m.9185T>C rs199476138
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_001039550.2(DNAJB2):c.229+1G>A rs730882139
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
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.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
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_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
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_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
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.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1747_1748delAG rs80338924
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs) rs80338928
NM_024577.3(SH3TC2):c.2491_2492delAG rs80338929
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
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
NP_000521.1(MPZ):p.Asn116Ser
PMP22, 1.4-MB DUP

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