ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic

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Total variants: 134
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HGVS dbSNP
NC_000001.11:g.(?_156137634)_(156139126_?)del
NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_001282625.1(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005572.3(LMNA):c.1110C>G (p.Asp370Glu) rs876657649
NM_005572.3(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_005572.3(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1300_1307del (p.Ala434Terfs) rs267607577
NM_005572.3(LMNA):c.1381-2A>G rs267607600
NM_005572.3(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_005572.3(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_005572.3(LMNA):c.356+1G>C rs794728589
NM_005572.3(LMNA):c.476del (p.Glu159Glyfs) rs876657650
NM_005572.3(LMNA):c.513+1G>C rs397517904
NM_005572.3(LMNA):c.555_556del (p.Asp185Glufs)
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_005572.3(LMNA):c.763del (p.Gln255Argfs) rs397517908
NM_005572.3(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_005572.3(LMNA):c.82C>G (p.Arg28Gly) rs59914820
NM_005572.3(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_005572.3(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_005572.3(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.2(LMNA):c.1004_1005delGGinsCC (p.Arg335Pro) rs1553265669
NM_170707.2(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.2(LMNA):c.1126T>C (p.Tyr376His) rs1131691263
NM_170707.2(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.2(LMNA):c.1489-2A>G rs879254081
NM_170707.2(LMNA):c.1562G>T (p.Gly521Val) rs794728596
NM_170707.2(LMNA):c.1609-1G>A rs111569862
NM_170707.2(LMNA):c.164_168delAGAACinsTCT (p.Glu55Valfs) rs1064793882
NM_170707.2(LMNA):c.1698+1G>C rs1553266337
NM_170707.2(LMNA):c.179G>C (p.Arg60Pro) rs794728601
NM_170707.2(LMNA):c.1819delG (p.Val607Trpfs) rs1064796394
NM_170707.2(LMNA):c.224C>T (p.Ser75Phe) rs879253975
NM_170707.2(LMNA):c.252G>C (p.Glu84Asp) rs794728586
NM_170707.2(LMNA):c.307C>T (p.Gln103Ter) rs1131691980
NM_170707.2(LMNA):c.329G>C (p.Arg110Pro) rs556237236
NM_170707.2(LMNA):c.329delG (p.Arg110Leufs) rs794728603
NM_170707.2(LMNA):c.339dupT (p.Lys114Terfs) rs794728604
NM_170707.2(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.2(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_170707.2(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.2(LMNA):c.439G>C (p.Ala147Pro) rs139875047
NM_170707.2(LMNA):c.443T>C (p.Leu148Pro) rs879253929
NM_170707.2(LMNA):c.513+2T>G rs1553264668
NM_170707.2(LMNA):c.619C>T (p.Gln207Ter) rs1085307888
NM_170707.2(LMNA):c.640-10A>G rs80356807
NM_170707.2(LMNA):c.64T>G (p.Ser22Ala) rs794728599
NM_170707.2(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.2(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.2(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.2(LMNA):c.781_783delAAG (p.Lys261del) rs58978449
NM_170707.2(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.2(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.3(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.3(LMNA):c.1073A>G (p.Glu358Gly) rs1114167345
NM_170707.3(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.3(LMNA):c.1112_1115dup (p.Glu372Aspfs) rs397517888
NM_170707.3(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.3(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.3(LMNA):c.1118T>G (p.Ile373Ser) rs1060502214
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.3(LMNA):c.1153_1155del (p.Glu385del) rs1553265761
NM_170707.3(LMNA):c.1160T>C (p.Leu387Pro) rs879253934
NM_170707.3(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.3(LMNA):c.122G>A (p.Arg41His) rs1060502215
NM_170707.3(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.3(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_170707.3(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.3(LMNA):c.1380+2T>G rs1553265924
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1436delT (p.Leu479Argfs) rs1553266024
NM_170707.3(LMNA):c.1494G>T (p.Trp498Cys) rs57730570
NM_170707.3(LMNA):c.1558T>C (p.Trp520Arg) rs267607557
NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.3(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.3(LMNA):c.1608+5G>A rs267607539
NM_170707.3(LMNA):c.1609-3C>G rs267607581
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.3(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.3(LMNA):c.1774G>A (p.Gly592Arg) rs786205448
NM_170707.3(LMNA):c.184C>T (p.Arg62Cys)
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.234G>T (p.Lys78Asn) rs727505038
NM_170707.3(LMNA):c.274C>T (p.Leu92Phe) rs267607560
NM_170707.3(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.3(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.3(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.3(LMNA):c.354_355delGCinsAG (p.Arg119Gly) rs869025458
NM_170707.3(LMNA):c.367_369delAAG (p.Lys123del) rs794728597
NM_170707.3(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.3(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.3(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) rs1553264624
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.3(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.3(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.3(LMNA):c.611T>G (p.Leu204Arg) rs1553265180
NM_170707.3(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.3(LMNA):c.625delA (p.Asn209Thrfs) rs62636507
NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.3(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.3(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.3(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.3(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.3(LMNA):c.810+1G>A rs267607632
NM_170707.3(LMNA):c.859delG (p.Ala287Leufs) rs59564495
NM_170707.3(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.3(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.3(LMNA):c.91_93delGAG (p.Glu31del) rs864309525
NM_170707.3(LMNA):c.937-1G>A rs1553265606
NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.3(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_170707.3(LMNA):c.99G>C (p.Glu33Asp) rs57966821
NM_170707.4(LMNA):c.1262_1263del (p.Leu421Argfs)
NM_170707.4(LMNA):c.1579del (p.Arg527Valfs)
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)
NM_170707.4(LMNA):c.639+1G>A
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)
NM_170708.3(LMNA):c.158A>G (p.Glu53Gly) rs60290646

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