ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_006158.5(NEFL):c.*1107C>T rs3761 0.10372
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_006158.5(NEFL):c.*1643G>A rs8077 0.08320
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_006158.5(NEFL):c.*378A>G rs17052849 0.04877
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_006158.5(NEFL):c.*1100C>T rs79736124 0.03959
NM_001136472.2(LITAF):c.-6+681dup rs398100090 0.02035
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_006158.5(NEFL):c.*883G>C rs76387248 0.01696
NM_000399.5(EGR2):c.627A>G (p.Pro209=) rs224083 0.01586
NM_006158.5(NEFL):c.*1155T>G rs116881703 0.00773
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_006158.5(NEFL):c.*485A>G rs145103399 0.00252
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_001136472.2(LITAF):c.*68G>A rs189101115 0.00186
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836 0.00037
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000304.4(PMP22):c.423G>T (p.Val141=) rs144077495 0.00021
NM_000304.4(PMP22):c.268C>G (p.Leu90Val) rs147114400 0.00020
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045 0.00019
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000399.5(EGR2):c.915C>A (p.Ala305=) rs759462455 0.00015
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_000304.4(PMP22):c.72C>A (p.Ile24=) rs371373574 0.00010
NM_000530.8(MPZ):c.270C>T (p.Asp90=) rs121913584 0.00010
NM_000530.8(MPZ):c.429G>T (p.Thr143=) rs138007992 0.00010
NM_000304.4(PMP22):c.318T>C (p.Ala106=) rs778234032 0.00009
NM_000304.4(PMP22):c.69G>C (p.Thr23=) rs376847762 0.00009
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734 0.00008
NM_000399.5(EGR2):c.1386C>G (p.Gly462=) rs768284273 0.00007
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000399.5(EGR2):c.1020C>T (p.Tyr340=) rs554727782 0.00006
NM_000399.5(EGR2):c.669C>A (p.Ile223=) rs766860417 0.00006
NM_000399.5(EGR2):c.840G>C (p.Val280=) rs563282095 0.00006
NM_000399.5(EGR2):c.912C>A (p.Ala304=) rs752399953 0.00006
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598 0.00006
NM_000304.4(PMP22):c.426C>T (p.Ala142=) rs763227987 0.00005
NM_000399.5(EGR2):c.540C>T (p.Asp180=) rs200913249 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000304.4(PMP22):c.342G>A (p.Ala114=) rs201871607 0.00004
NM_000304.4(PMP22):c.381C>T (p.Asn127=) rs369477577 0.00004
NM_000399.5(EGR2):c.801A>T (p.Thr267=) rs758589570 0.00004
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000304.4(PMP22):c.18G>C (p.Leu6=) rs781550490 0.00003
NM_000304.4(PMP22):c.21T>C (p.Ser7=) rs755300278 0.00003
NM_000530.8(MPZ):c.234+16A>T rs1352578591 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000304.4(PMP22):c.179-13C>G rs756820859 0.00002
NM_000304.4(PMP22):c.234G>A (p.Leu78=) rs745546543 0.00002
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs778132801 0.00002
NM_000304.4(PMP22):c.96T>C (p.Asn32=) rs1315038358 0.00002
NM_000399.5(EGR2):c.1053C>T (p.Phe351=) rs754645141 0.00002
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073 0.00002
NM_000399.5(EGR2):c.1428T>A (p.Pro476=) rs377518489 0.00002
NM_000399.5(EGR2):c.285G>A (p.Lys95=) rs1050343149 0.00002
NM_000399.5(EGR2):c.561G>A (p.Ala187=) rs144739493 0.00002
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 0.00002
NM_000399.5(EGR2):c.921C>T (p.Ala307=) rs751393520 0.00002
NM_000530.8(MPZ):c.449-9C>T rs750530042 0.00002
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) rs140671661 0.00002
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
NM_000304.4(PMP22):c.100C>T (p.His34Tyr) rs756458019 0.00001
NM_000304.4(PMP22):c.102C>T (p.His34=) rs779654897 0.00001
NM_000304.4(PMP22):c.216G>A (p.Ser72=) rs774493881 0.00001
NM_000304.4(PMP22):c.246G>A (p.Leu82=) rs779700333 0.00001
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001
NM_000304.4(PMP22):c.447C>T (p.Ser149=) rs775019409 0.00001
NM_000304.4(PMP22):c.471G>A (p.Arg157=) rs770693814 0.00001
NM_000304.4(PMP22):c.78+10T>C rs1197403748 0.00001
NM_000399.5(EGR2):c.1149C>T (p.Asp383=) rs762387092 0.00001
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) rs965148587 0.00001
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422 0.00001
NM_000399.5(EGR2):c.165C>G (p.Ala55=) rs151290032 0.00001
NM_000399.5(EGR2):c.170-4C>G rs1221455836 0.00001
NM_000399.5(EGR2):c.267C>T (p.Thr89=) rs747877927 0.00001
NM_000399.5(EGR2):c.369G>A (p.Gly123=) rs1458338517 0.00001
NM_000399.5(EGR2):c.507G>A (p.Pro169=) rs1060504688 0.00001
NM_000399.5(EGR2):c.567G>A (p.Leu189=) rs1461306330 0.00001
NM_000399.5(EGR2):c.735C>T (p.Asp245=) rs1275161182 0.00001
NM_000399.5(EGR2):c.769C>A (p.Arg257=) rs368282744 0.00001
NM_000399.5(EGR2):c.774G>A (p.Val258=) rs758709729 0.00001
NM_000399.5(EGR2):c.777C>G (p.Pro259=) rs750955966 0.00001
NM_000399.5(EGR2):c.789T>C (p.Thr263=) rs765678040 0.00001
NM_000399.5(EGR2):c.807T>C (p.Arg269=) rs1367488546 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 0.00001
NM_000399.5(EGR2):c.96C>T (p.Ala32=) rs769285458 0.00001
NM_000399.5(EGR2):c.9C>T (p.Thr3=) rs1554853482 0.00001
NM_000530.8(MPZ):c.102C>T (p.Thr34=) rs749600926 0.00001
NM_000530.8(MPZ):c.162C>A (p.Ser54=) rs373911573 0.00001
NM_000530.8(MPZ):c.279G>A (p.Gly93=) rs778303597 0.00001
NM_000530.8(MPZ):c.297C>A (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055 0.00001
NM_000530.8(MPZ):c.372G>A (p.Thr124=) rs536830537 0.00001
NM_000530.8(MPZ):c.449-10C>T rs200559887 0.00001
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921 0.00001
NM_000530.8(MPZ):c.585-12C>G rs375616364 0.00001
NM_000530.8(MPZ):c.585-5T>C rs1026836999 0.00001
NM_000530.8(MPZ):c.645+12T>C rs750848798 0.00001
NM_000530.8(MPZ):c.646-7C>T rs377495735 0.00001
NM_000530.8(MPZ):c.663A>G (p.Ala221=) rs1404344759 0.00001
NM_000530.8(MPZ):c.67+10G>A rs1252695545 0.00001
NM_000530.8(MPZ):c.78G>C (p.Pro26=) rs777790314 0.00001
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.138C>A (p.Ser46=)
NM_000304.4(PMP22):c.153C>T (p.His51=)
NM_000304.4(PMP22):c.178+7C>G
NM_000304.4(PMP22):c.179-15G>C
NM_000304.4(PMP22):c.179-17G>C
NM_000304.4(PMP22):c.179-20C>G rs1907138508
NM_000304.4(PMP22):c.180A>G (p.Glu60=) rs1223037928
NM_000304.4(PMP22):c.189G>A (p.Gln63=)
NM_000304.4(PMP22):c.267C>T (p.Thr89=)
NM_000304.4(PMP22):c.273C>T (p.Thr91=)
NM_000304.4(PMP22):c.319+11G>A
NM_000304.4(PMP22):c.320-18G>A
NM_000304.4(PMP22):c.320-4C>G rs377467465
NM_000304.4(PMP22):c.330G>C (p.Val110=)
NM_000304.4(PMP22):c.345C>T (p.Ala115=)
NM_000304.4(PMP22):c.351C>T (p.Tyr117=) rs1906290133
NM_000304.4(PMP22):c.354G>A (p.Thr118=)
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.369G>A (p.Glu123=)
NM_000304.4(PMP22):c.36C>T (p.His12=) rs104894622
NM_000304.4(PMP22):c.387T>C (p.Asp129=) rs1597597640
NM_000304.4(PMP22):c.393C>T (p.Ser131=)
NM_000304.4(PMP22):c.42G>C (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.42G>T (p.Ala14=) rs1555568786
NM_000304.4(PMP22):c.438C>T (p.Ala146=)
NM_000304.4(PMP22):c.480A>G (p.Glu160=)
NM_000304.4(PMP22):c.69G>A (p.Thr23=) rs376847762
NM_000304.4(PMP22):c.78+16G>A
NM_000304.4(PMP22):c.78+7G>A
NM_000304.4(PMP22):c.78+9C>T rs1428777013
NM_000304.4(PMP22):c.79-14C>G
NM_000304.4(PMP22):c.79-16A>C rs373417110
NM_000304.4(PMP22):c.79-16A>G rs373417110
NM_000304.4(PMP22):c.79-4C>A
NM_000304.4(PMP22):c.79-4C>G
NM_000304.4(PMP22):c.79-8C>T rs1597633194
NM_000399.5(EGR2):c.*1080G>A rs886047085
NM_000399.5(EGR2):c.1041C>T (p.Cys347=)
NM_000399.5(EGR2):c.1044C>T (p.Asp348=) rs2132703130
NM_000399.5(EGR2):c.1047G>T (p.Arg349=) rs2132703104
NM_000399.5(EGR2):c.1050G>C (p.Arg350=) rs781058000
NM_000399.5(EGR2):c.1050G>T (p.Arg350=)
NM_000399.5(EGR2):c.1077G>C (p.Arg359=) rs2132702888
NM_000399.5(EGR2):c.1080C>T (p.His360=) rs766297007
NM_000399.5(EGR2):c.1170C>T (p.Arg390=)
NM_000399.5(EGR2):c.1191C>T (p.Pro397=) rs2132702386
NM_000399.5(EGR2):c.1206C>T (p.Tyr402=) rs1554853017
NM_000399.5(EGR2):c.1248C>T (p.His416=) rs1589080344
NM_000399.5(EGR2):c.126C>G (p.Ala42=) rs1554853456
NM_000399.5(EGR2):c.129A>G (p.Glu43=) rs1023788893
NM_000399.5(EGR2):c.1302G>T (p.Ser434=)
NM_000399.5(EGR2):c.130C>T (p.Leu44=) rs2132712516
NM_000399.5(EGR2):c.1320A>T (p.Thr440=) rs1842159546
NM_000399.5(EGR2):c.1323C>T (p.Ala441=)
NM_000399.5(EGR2):c.1326C>T (p.Ser442=)
NM_000399.5(EGR2):c.1353T>G (p.Gly451=)
NM_000399.5(EGR2):c.1357C>T (p.Leu453=)
NM_000399.5(EGR2):c.1386C>T (p.Gly462=) rs768284273
NM_000399.5(EGR2):c.1398C>T (p.Leu466=)
NM_000399.5(EGR2):c.1414C>A (p.Arg472=)
NM_000399.5(EGR2):c.1425A>C (p.Thr475=)
NM_000399.5(EGR2):c.169+13T>A rs1479396729
NM_000399.5(EGR2):c.169+19C>T
NM_000399.5(EGR2):c.170-10C>T rs755853466
NM_000399.5(EGR2):c.170-11C>G
NM_000399.5(EGR2):c.170-14T>C
NM_000399.5(EGR2):c.170-19C>A
NM_000399.5(EGR2):c.170-8C>T
NM_000399.5(EGR2):c.171T>C (p.Asp57=)
NM_000399.5(EGR2):c.18C>T (p.Ala6=) rs1225211720
NM_000399.5(EGR2):c.198A>C (p.Gly66=) rs201770282
NM_000399.5(EGR2):c.210G>A (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.210G>C (p.Ser70=) rs776156156
NM_000399.5(EGR2):c.339C>A (p.Ile113=) rs1842207132
NM_000399.5(EGR2):c.384T>A (p.Ala128=)
NM_000399.5(EGR2):c.417C>T (p.Ala139=) rs1842204239
NM_000399.5(EGR2):c.426C>T (p.Asn142=)
NM_000399.5(EGR2):c.430C>T (p.Leu144=)
NM_000399.5(EGR2):c.480C>T (p.Asp160=) rs1842201460
NM_000399.5(EGR2):c.501G>A (p.Pro167=)
NM_000399.5(EGR2):c.564C>T (p.Phe188=) rs776212792
NM_000399.5(EGR2):c.630C>T (p.Ser210=)
NM_000399.5(EGR2):c.645G>A (p.Thr215=) rs781408172
NM_000399.5(EGR2):c.645G>C (p.Thr215=)
NM_000399.5(EGR2):c.684A>T (p.Gly228=) rs1021225769
NM_000399.5(EGR2):c.712C>T (p.Leu238=)
NM_000399.5(EGR2):c.723A>C (p.Thr241=)
NM_000399.5(EGR2):c.762C>T (p.Asp254=)
NM_000399.5(EGR2):c.765C>T (p.Thr255=)
NM_000399.5(EGR2):c.766C>T (p.Leu256=)
NM_000399.5(EGR2):c.780T>A (p.Pro260=) rs1465091838
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>G (p.Thr281=)
NM_000399.5(EGR2):c.843C>T (p.Thr281=) rs375890313
NM_000399.5(EGR2):c.867C>T (p.Ser289=)
NM_000399.5(EGR2):c.879G>C (p.Arg293=)
NM_000399.5(EGR2):c.882G>C (p.Leu294=)
NM_000399.5(EGR2):c.912C>T (p.Ala304=)
NM_000399.5(EGR2):c.943C>T (p.Leu315=)
NM_000399.5(EGR2):c.957C>T (p.Pro319=) rs772281054
NM_000399.5(EGR2):c.978C>T (p.Tyr326=)
NM_000399.5(EGR2):c.990C>G (p.Pro330=)
NM_000530.8(MPZ):c.114C>G (p.Val38=) rs1571820275
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
NM_000530.8(MPZ):c.168G>A (p.Glu56=) rs757135674
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
NM_000530.8(MPZ):c.201C>T (p.Arg67=) rs1571819920
NM_000530.8(MPZ):c.216G>A (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.216G>C (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.234+12G>A
NM_000530.8(MPZ):c.234+13G>A
NM_000530.8(MPZ):c.234+14G>A
NM_000530.8(MPZ):c.243C>T (p.His81=) rs1571819354
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
NM_000530.8(MPZ):c.333C>T (p.Ser111=) rs2102258993
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.448+10G>A rs1224416223
NM_000530.8(MPZ):c.448+13A>T
NM_000530.8(MPZ):c.448+17G>A rs1172824315
NM_000530.8(MPZ):c.448+19A>G
NM_000530.8(MPZ):c.449-14C>T
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
NM_000530.8(MPZ):c.49C>T (p.Leu17=) rs2102262770
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
NM_000530.8(MPZ):c.577A>C (p.Arg193=)
NM_000530.8(MPZ):c.584+10G>C rs946514874
NM_000530.8(MPZ):c.584+16dup
NM_000530.8(MPZ):c.584+18G>C
NM_000530.8(MPZ):c.584+8G>A
NM_000530.8(MPZ):c.585-15T>C
NM_000530.8(MPZ):c.585-19G>A rs1558153528
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.585-8T>A
NM_000530.8(MPZ):c.585-8T>C rs1571817654
NM_000530.8(MPZ):c.597G>A (p.Lys199=) rs777928293
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
NM_000530.8(MPZ):c.645+10A>G rs1670232533
NM_000530.8(MPZ):c.646-12C>A
NM_000530.8(MPZ):c.646-20T>G
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
NM_000530.8(MPZ):c.648G>C (p.Thr216=)
NM_000530.8(MPZ):c.648G>T (p.Thr216=) rs755728895
NM_000530.8(MPZ):c.654G>A (p.Val218=) rs1571817228
NM_000530.8(MPZ):c.655C>T (p.Leu219=) rs1571817225
NM_000530.8(MPZ):c.67+15T>A
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
NM_000530.8(MPZ):c.738T>C (p.Asp246=) rs1571816986
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
NM_000530.8(MPZ):c.90C>T (p.Ile30=)
NM_006158.5(NEFL):c.*1198G>C rs4644268
NM_006158.5(NEFL):c.*407_*408del rs144391096

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