ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 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.1698+1G>A rs1553266337 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 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.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 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
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1126T>C (p.Tyr376His) rs1131691263
NM_170707.4(LMNA):c.1146C>A (p.Gly382=) rs57508089
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.1158-2A>G rs267607636
NM_170707.4(LMNA):c.122G>C (p.Arg41Pro) rs1060502215
NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs) rs1572364243
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter) rs2102891243
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp) rs2102893640
NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg) rs267607639
NM_170707.4(LMNA):c.1436del (p.Leu479fs) rs1553266024
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1510del (p.Ala504fs) rs1572366216
NM_170707.4(LMNA):c.1562G>T (p.Gly521Val) rs794728596
NM_170707.4(LMNA):c.1579del (p.Arg527fs) rs1572366608
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.1606del (p.Glu536fs) rs1651736894
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs) rs1064793882
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) rs794728601
NM_170707.4(LMNA):c.1819del (p.Val607fs) rs1064796394
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe) rs879253975
NM_170707.4(LMNA):c.241T>C (p.Tyr81His) rs1553261977
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp) rs794728586
NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) rs1131691980
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg) rs2102818914
NM_170707.4(LMNA):c.329del (p.Arg110fs) rs794728603
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del) rs61726474
NM_170707.4(LMNA):c.339dup (p.Lys114Ter) rs794728604
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.356+3_356+6del rs1649747081
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu) rs267607629
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.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.626del (p.Asn209fs) rs62636507
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr) rs267607584
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly) rs2102886914
NM_170707.4(LMNA):c.983_996delinsAGG (p.Ala328fs) rs1572362631
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204

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