ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro) rs1553265669
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.1126T>C (p.Tyr376His) rs1131691263
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1436del (p.Leu479fs) rs1553266024
NM_170707.4(LMNA):c.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1562G>T (p.Gly521Val) rs794728596
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs) rs1064793882
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
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.252G>C (p.Glu84Asp) rs794728586
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) rs1131691980
NM_170707.4(LMNA):c.329G>C (p.Arg110Pro) rs556237236
NM_170707.4(LMNA):c.329del (p.Arg110fs) rs794728603
NM_170707.4(LMNA):c.339dup (p.Lys114Ter) rs794728604
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.364_366AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro) rs139875047
NM_170707.4(LMNA):c.443T>C (p.Leu148Pro) rs879253929
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.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.64T>G (p.Ser22Ala) rs794728599
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262

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