ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic for peripheral neuropathy

Included ClinVar conditions (526):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
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.142C>G (p.Arg48Gly) rs769977710 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 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.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1698+1G>A rs1553266337 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 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.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
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
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)
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)
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)
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.1316G>A (p.Arg439His)
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)
NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)
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)
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)
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
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
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.179G>A (p.Arg60His)
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.193G>A (p.Glu65Lys)
NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
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.344A>T (p.Glu115Val) rs794728588
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)
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
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>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
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)
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.746G>C (p.Arg249Pro)
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.822del (p.Arg275fs) rs2102883169
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.893G>A (p.Arg298His)
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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