ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu) rs764238525 0.00004
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln) rs760375604 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) rs779199750 0.00001
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 0.00001
NM_001122955.4(BSCL2):c.486+1G>A rs1011200048 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.2177+1G>A rs766251338 0.00001
NM_001605.3(AARS1):c.817-1G>A rs866662905 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter) rs142626276 0.00001
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1316G>A (p.Arg439His) rs1171976101 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly) rs769977710 0.00001
NM_170707.4(LMNA):c.1698+1G>A rs1553266337 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys) rs1168314722 0.00001
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.893G>A (p.Arg298His) rs762653476 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NC_000001.10:g.(?_156100388)_(156100584_?)dup
NC_000001.10:g.(?_156100388)_(156107554_?)dup
NC_000001.10:g.(?_156102657)_(156104215_?)del
NC_000001.10:g.(?_156104586)_(156108907_?)del
NC_000001.10:g.(?_156105681)_(156107037_?)del
NC_000001.10:g.(?_156108509)_(156108950_?)del
NC_000001.11:g.(?_156134383)_(156134548_?)del
NC_000001.11:g.(?_156134393)_(156134538_?)del
NC_000001.11:g.(?_156137634)_(156139126_?)del
NC_000016.9:g.(?_70310369)_(70311077_?)dup
NM_000117.3(EMD):c.82+1G>A rs1557182214
NM_001122955.4(BSCL2):c.1006-1G>A rs777430457
NM_001122955.4(BSCL2):c.1006-2A>C rs879254029
NM_001122955.4(BSCL2):c.1154-1del rs1945285043
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) rs1590881633
NM_001122955.4(BSCL2):c.487-1G>A rs2539155047
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001605.3(AARS1):c.1071+1G>A rs2152160643
NM_001605.3(AARS1):c.1493-2A>G
NM_001605.3(AARS1):c.1992+1G>A rs1960065852
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.334-6_338del rs2152166762
NM_001605.3(AARS1):c.962+1G>T rs1361458223
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser) rs1554338264
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg) rs2128134025
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu) rs2128134025
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly) rs1554338641
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys) rs1060502839
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_004984.4(KIF5A):c.2987A>G (p.Asp996Gly) rs2140172189
NM_007289.4(MME):c.838G>T (p.Glu280Ter) rs1402177037
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
NM_014874.4(MFN2):c.1496-2A>G rs1483207355
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro) rs144860227
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val) rs2523122904
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn) rs2523010293
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg) rs2523010895
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe) rs1569830013
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.449G>T (p.Gly150Val) rs1060501918
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.495T>A (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.495T>G (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly) rs1569842483
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro) rs1553143165
NM_014874.4(MFN2):c.700A>G (p.Met234Val) rs2100831955
NM_014874.4(MFN2):c.700A>T (p.Met234Leu) rs2100831955
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser) rs587777875
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_014874.4(MFN2):c.970+1G>T rs1553143890
NM_021815.5(SLC5A7):c.1113+2T>A rs2104379614
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln) rs58789393
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn) rs267607567
NM_170707.4(LMNA):c.1069G>C (p.Asp357His) rs267607567
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln) rs267607634
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val) rs2102888292
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser) rs1060502214
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser) rs879254162
NM_170707.4(LMNA):c.112C>G (p.Leu38Val) rs2102817550
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe) rs2102817550
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met) rs1215331296
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp) rs267607603
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157+1G>T rs267607590
NM_170707.4(LMNA):c.1158-1G>T rs1651598289
NM_170707.4(LMNA):c.115A>C (p.Asn39His) rs267607627
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp) rs267607627
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) rs57983345
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln) rs267607620
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser) rs2102817644
NM_170707.4(LMNA):c.1336G>A (p.Asp446Asn)
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val) rs58541611
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.133T>C (p.Tyr45His) rs1649714371
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr) rs267607599
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr) rs60992550
NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser) rs60992550
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys) rs61235244
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg) rs267607639
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.143G>A (p.Arg48His) rs1572332235
NM_170707.4(LMNA):c.143G>T (p.Arg48Leu) rs1572332235
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg) rs1558132909
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.148C>G (p.Arg50Gly) rs59931416
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys) rs794728595
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro) rs121912494
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-2A>G rs2528018166
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser) rs578193315
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.179G>A (p.Arg60His) rs794728601
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys) rs56793579
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu) rs1649721643
NM_170707.4(LMNA):c.194A>T (p.Glu65Val) rs2102818172
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly) rs2527833277
NM_170707.4(LMNA):c.254T>A (p.Leu85His) rs28933090
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly) rs267607559
NM_170707.4(LMNA):c.266G>A (p.Arg89His) rs59040894
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) rs59040894
NM_170707.4(LMNA):c.274C>G (p.Leu92Val) rs267607560
NM_170707.4(LMNA):c.28A>C (p.Thr10Pro) rs2527829303
NM_170707.4(LMNA):c.28A>T (p.Thr10Ser)
NM_170707.4(LMNA):c.29C>G (p.Thr10Ser)
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly) rs1650974818
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp) rs1650974818
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.513+2T>C rs1553264668
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.513G>A (p.Lys171=) rs267607542
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro) rs1651348222
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro) rs2102878915
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg) rs2102878915
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser) rs2527968384
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.639+1G>A rs869125101
NM_170707.4(LMNA):c.639+1G>T rs869125101
NM_170707.4(LMNA):c.640-2A>G rs1572359505
NM_170707.4(LMNA):c.640-67_718del
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr) rs267607584
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro) rs199474724
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu) rs199474724
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu) rs397517906
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln) rs2527973813
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.746G>C (p.Arg249Pro)
NM_170707.4(LMNA):c.74G>A (p.Arg25His) rs61578124
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) rs61578124
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.811-1G>C
NM_170707.4(LMNA):c.811-2A>G rs2102883099
NM_170707.4(LMNA):c.833C>T (p.Ala278Val)
NM_170707.4(LMNA):c.857_859del (p.Gly286del) rs59564495
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.869A>T (p.Glu290Val) rs1651453317
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.937-1G>A rs1553265606
NM_170707.4(LMNA):c.991C>G (p.Arg331Gly)
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204

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