ClinVar Miner

List of variants in gene LMNA, LOC126805877 studied for Charcot-Marie-Tooth disease type 2

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_170707.4(LMNA):c.357-8T>C rs1053291240 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu) rs1222398892 0.00002
NM_170707.4(LMNA):c.504G>C (p.Gln168His) rs747771347 0.00002
NM_170707.4(LMNA):c.357-13C>A rs1264489096 0.00001
NM_170707.4(LMNA):c.357-19T>C rs757689089 0.00001
NM_170707.4(LMNA):c.366G>A (p.Lys122=) rs1650968214 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.439G>A (p.Ala147Thr) rs139875047 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622 0.00001
NM_170707.4(LMNA):c.477G>A (p.Glu159=) rs1424758064 0.00001
NM_170707.4(LMNA):c.480C>A (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.480C>T (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.498G>A (p.Arg166=) rs886043189 0.00001
NM_170707.4(LMNA):c.513+12C>A rs756758566 0.00001
NM_170707.4(LMNA):c.357-18C>G
NM_170707.4(LMNA):c.357-18C>T
NM_170707.4(LMNA):c.357-1G>T rs267607569
NM_170707.4(LMNA):c.357-2A>G rs113610699
NM_170707.4(LMNA):c.357-396_434del
NM_170707.4(LMNA):c.357-6C>G
NM_170707.4(LMNA):c.357-9C>T rs1186195332
NM_170707.4(LMNA):c.362C>T (p.Thr121Ile)
NM_170707.4(LMNA):c.364A>C (p.Lys122Gln) rs1222398892
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.371A>G (p.Glu124Gly) rs1650969002
NM_170707.4(LMNA):c.372G>A (p.Glu124=) rs1572352924
NM_170707.4(LMNA):c.375T>C (p.Gly125=) rs1164862537
NM_170707.4(LMNA):c.376G>A (p.Asp126Asn) rs1351159308
NM_170707.4(LMNA):c.378C>A (p.Asp126Glu) rs869025456
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
NM_170707.4(LMNA):c.379C>T (p.Leu127=) rs1428192739
NM_170707.4(LMNA):c.380T>C (p.Leu127Pro) rs2102865527
NM_170707.4(LMNA):c.381G>C (p.Leu127=)
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
NM_170707.4(LMNA):c.384A>T (p.Ile128=)
NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp) rs1650973990
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter) rs1553264593
NM_170707.4(LMNA):c.393G>A (p.Gln131=)
NM_170707.4(LMNA):c.393G>C (p.Gln131His) rs2102865651
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.400C>G (p.Leu134Val)
NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)
NM_170707.4(LMNA):c.409C>G (p.Leu137Val) rs747998566
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro) rs60652225
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro) rs2102865805
NM_170707.4(LMNA):c.423G>A (p.Leu141=) rs2102865822
NM_170707.4(LMNA):c.424A>G (p.Asn142Asp) rs1060502217
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.430A>G (p.Lys144Glu) rs2102865891
NM_170707.4(LMNA):c.430_432del (p.Lys144del) rs1553264615
NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)
NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)
NM_170707.4(LMNA):c.435G>A (p.Glu145=) rs1228858436
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro) rs139875047
NM_170707.4(LMNA):c.439G>T (p.Ala147Ser) rs139875047
NM_170707.4(LMNA):c.441A>T (p.Ala147=)
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.450_451del (p.Ala151fs)
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)
NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg) rs754097769
NM_170707.4(LMNA):c.470C>T (p.Thr157Met) rs754097769
NM_170707.4(LMNA):c.471G>T (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.472C>T (p.Leu158=) rs2102866147
NM_170707.4(LMNA):c.475G>C (p.Glu159Gln)
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg) rs765665953
NM_170707.4(LMNA):c.478_479del (p.Gly160fs)
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter) rs28933093
NM_170707.4(LMNA):c.489T>G (p.His163Gln) rs1558126350
NM_170707.4(LMNA):c.490G>A (p.Asp164Asn)
NM_170707.4(LMNA):c.490G>T (p.Asp164Tyr) rs751033102
NM_170707.4(LMNA):c.491A>G (p.Asp164Gly) rs1650988739
NM_170707.4(LMNA):c.495G>T (p.Leu165=) rs2102866374
NM_170707.4(LMNA):c.496C>A (p.Arg166=) rs370200334
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.503A>G (p.Gln168Arg)
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
NM_170707.4(LMNA):c.507G>A (p.Val169=)
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.512A>G (p.Lys171Arg)
NM_170707.4(LMNA):c.513+11C>A rs1331483345
NM_170707.4(LMNA):c.513+11C>T
NM_170707.4(LMNA):c.513+18G>A
NM_170707.4(LMNA):c.513+19G>T
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.513+20C>T
NM_170707.4(LMNA):c.513+2T>C rs1553264668
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.513+45T>C
NM_170707.4(LMNA):c.513+45T>G rs878853220
NM_170707.4(LMNA):c.513+6G>A rs751256959
NM_170707.4(LMNA):c.513+6_513+20dup
NM_170707.4(LMNA):c.513+8C>T rs1060504515
NM_170707.4(LMNA):c.513G>A (p.Lys171=) rs267607542
NM_170707.4(LMNA):c.513G>C (p.Lys171Asn) rs267607542

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