ClinVar Miner

List of variants in gene LMNA reported as pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) rs987157491 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr) rs1553265433 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NC_000001.10:g.(?_156083461)_(156110880_?)del
NC_000001.10:g.(?_156084700)_(156108907_?)del
NC_000001.10:g.(?_156084710)_(156085085_?)del
NC_000001.10:g.(?_156100388)_(156100584_?)del
NC_000001.10:g.(?_156100388)_(156108568_?)del
NC_000001.10:g.(?_156104184)_(156105922_?)dup
NC_000001.10:g.(?_156105672)_(156108897_?)del
NC_000001.10:g.(?_156105693)_(156106165_?)del
NC_000001.10:g.(?_156106692)_(156107554_?)del
NC_000001.11:g.(?_156134393)_(156139116_?)del
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser) rs794728612
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1030del (p.Glu344fs) rs1572362885
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter) rs1651564707
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1089_1114dup (p.Glu372fs)
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn) rs878855231
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1114del (p.Glu372fs) rs267607575
NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly) rs2102888292
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met) rs1340894696
NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1142del (p.Glu381fs) rs1553265760
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys) rs1651580090
NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys) rs2102888695
NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly) rs1572363397
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro) rs879253934
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter) rs267607561
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) rs267607620
NM_170707.4(LMNA):c.11dup (p.Ser5fs) rs1572331707
NM_170707.4(LMNA):c.1214del (p.His405fs)
NM_170707.4(LMNA):c.1215_1218del (p.Ser406fs)
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser) rs1572332164
NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)
NM_170707.4(LMNA):c.1229_1230del (p.Gln410fs)
NM_170707.4(LMNA):c.122G>A (p.Arg41His) rs1060502215
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.4(LMNA):c.1232del (p.Gly411fs) rs2102889960
NM_170707.4(LMNA):c.1232dup (p.Gly412fs) rs2102889960
NM_170707.4(LMNA):c.1238del (p.Gly413fs) rs2102890051
NM_170707.4(LMNA):c.1248del (p.Lys418fs) rs2102890220
NM_170707.4(LMNA):c.1253del (p.Lys418fs) rs2102890245
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter) rs1448275854
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs) rs1553265865
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.128C>A (p.Ala43Glu) rs2102817667
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1315dup (p.Arg439fs)
NM_170707.4(LMNA):c.1316_1322del (p.Arg439fs)
NM_170707.4(LMNA):c.1321del (p.Ala441fs) rs2102890974
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly) rs58541611
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter) rs2102891243
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) rs267607637
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro) rs267607598
NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter) rs2102817698
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro) rs267607597
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del) rs267607550
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.1377dup (p.Glu460Ter) rs2102891579
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1380+2T>G rs1553265924
NM_170707.4(LMNA):c.1397del (p.Asn466fs) rs58100028
NM_170707.4(LMNA):c.13del (p.Ser5fs) rs1649695841
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter) rs2102893828
NM_170707.4(LMNA):c.1417_1438dup (p.Thr480delinsLysTrpArgTer)
NM_170707.4(LMNA):c.1436del (p.Leu479fs) rs1553266024
NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly) rs57920071
NM_170707.4(LMNA):c.1473del (p.Gln493fs)
NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro) rs1553266048
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu) rs60695352
NM_170707.4(LMNA):c.1510del (p.Ala504fs) rs1572366216
NM_170707.4(LMNA):c.1516del (p.His506fs) rs1558133157
NM_170707.4(LMNA):c.1526del (p.Pro509fs) rs58013325
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter) rs1572366412
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter) rs2102895466
NM_170707.4(LMNA):c.1551_1587dup (p.Leu530fs) rs2102895541
NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg) rs267607557
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) rs267607557
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu) rs57520892
NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs) rs1572366593
NM_170707.4(LMNA):c.1580dup (p.Thr528fs)
NM_170707.4(LMNA):c.1582_1583del (p.Thr528fs)
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe) rs1558133435
NM_170707.4(LMNA):c.1587_1590dup (p.Ile531fs) rs2102896007
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) rs60290646
NM_170707.4(LMNA):c.1599del (p.Thr534fs)
NM_170707.4(LMNA):c.1606del (p.Glu536fs) rs1651736894
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1608+2T>G rs2102896324
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) rs879253932
NM_170707.4(LMNA):c.163G>T (p.Glu55Ter) rs1649719689
NM_170707.4(LMNA):c.1657dup (p.Asp553fs) rs1572367812
NM_170707.4(LMNA):c.1660del (p.Glu554fs)
NM_170707.4(LMNA):c.16del (p.Gln6fs) rs1649696391
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del) rs2102901580
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.186dup (p.Ile63fs) rs2102818068
NM_170707.4(LMNA):c.194A>G (p.Glu65Gly) rs2102818172
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.1A>T (p.Met1Leu) rs2102816719
NM_170707.4(LMNA):c.203A>T (p.Glu68Val) rs2102818240
NM_170707.4(LMNA):c.205del (p.Val69fs)
NM_170707.4(LMNA):c.210del (p.Ser71fs) rs1649726768
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter) rs1649727816
NM_170707.4(LMNA):c.217_239del (p.Glu73fs)
NM_170707.4(LMNA):c.239_256del (p.Ala80_Leu85del) rs1649729767
NM_170707.4(LMNA):c.241dup (p.Tyr81fs)
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.248_251dup (p.Glu84fs) rs1553261982
NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.274del (p.Asp93fs)
NM_170707.4(LMNA):c.275T>C (p.Leu92Pro) rs2102818731
NM_170707.4(LMNA):c.280T>C (p.Ser94Pro) rs2102818745
NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter) rs2102818749
NM_170707.4(LMNA):c.298_299del (p.Ala100fs) rs1649736692
NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)
NM_170707.4(LMNA):c.333_334delinsAT (p.Glu112Ter)
NM_170707.4(LMNA):c.334G>T (p.Glu112Ter) rs1553262031
NM_170707.4(LMNA):c.339dup (p.Lys114Ter) rs794728604
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.356+1G>A rs794728589
NM_170707.4(LMNA):c.356+2T>A
NM_170707.4(LMNA):c.356+2T>G
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.526del (p.Ala175_Leu176insTer) rs2102878324
NM_170707.4(LMNA):c.535del (p.Ala179fs)
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter) rs1651341099
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) rs1553265165
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter) rs1572358860
NM_170707.4(LMNA):c.603GGA[1] (p.Glu203del) rs1060502210
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>T (p.Glu203Val) rs28933092
NM_170707.4(LMNA):c.611del (p.Leu204fs) rs1651352665
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter) rs1085307888
NM_170707.4(LMNA):c.623_626dup (p.Asn209fs) rs2102879250
NM_170707.4(LMNA):c.636_637dup (p.Glu213fs) rs2102879360
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)
NM_170707.4(LMNA):c.669_670del (p.Glu223fs)
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.705del (p.Glu236fs) rs1651401067
NM_170707.4(LMNA):c.705dup (p.Glu236Ter)
NM_170707.4(LMNA):c.707del (p.Glu236fs)
NM_170707.4(LMNA):c.720_730del (p.Leu241fs)
NM_170707.4(LMNA):c.729dup (p.Ala244fs) rs1553265328
NM_170707.4(LMNA):c.734dup (p.Gln246fs)
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.740_748del (p.Glu247_Arg249del) rs1572359991
NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp) rs1553265342
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.745_746insAT (p.Arg249fs)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.755dup (p.His252fs)
NM_170707.4(LMNA):c.758_810+70del
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.792_793insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGGAGCTGGAG (p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.810+1G>A rs267607632
NM_170707.4(LMNA):c.810+2T>C rs2102882192
NM_170707.4(LMNA):c.810+32_1323del
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro) rs886043260
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) rs1553265455
NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.893G>C (p.Arg298Pro) rs762653476
NM_170707.4(LMNA):c.902_905dup (p.Ser303fs)
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter) rs878855234
NM_170707.4(LMNA):c.934C>T (p.Gln312Ter) rs1651466808
NM_170707.4(LMNA):c.936+1G>A rs267607588
NM_170707.4(LMNA):c.937-11C>G rs267607645
NM_170707.4(LMNA):c.940del (p.Ala314fs)
NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.973del (p.Asp325fs)
NM_170707.4(LMNA):c.978_979del (p.Leu327fs) rs794728610
NM_170707.4(LMNA):c.980_995del (p.Leu327fs) rs2102887031
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter) rs1060502211
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647

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