List of variants in gene LMNA reported as likely pathogenic for cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	rs142191737	0.00025
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	rs61094188	0.00015
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	rs60890628	0.00011
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	rs56851164	0.00009
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)	rs201583907	0.00006
NM_170707.4(LMNA):c.329G>A (p.Arg110His)	rs556237236	0.00005
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	rs59301204	0.00004
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)	rs373584456	0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)	rs766856162	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.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	rs267607560	0.00001
NM_170707.4(LMNA):c.356+1G>C	rs794728589	0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)	rs267607626	0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	rs794728591	0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)	rs397517906	0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	rs56816490	0.00001
NM_170707.4(LMNA):c.1032dup (p.Met345fs)
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)	rs1114167345
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)	rs397517886
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del)	rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)	rs397517888
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	rs1553265736
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	rs1553265739
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	rs57508089
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	rs1057515421
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	rs267607618
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer)	rs267607577
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)	rs58436778
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1364_1365del (p.Arg455fs)	rs1651642668
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	rs1553265999
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)	rs57730570
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	rs58013325
NM_170707.4(LMNA):c.154C>G (p.Leu52Val)	rs397517895
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	rs57629361
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	rs60580541
NM_170707.4(LMNA):c.1608+2T>A	rs2102896324
NM_170707.4(LMNA):c.1609-1G>A	rs111569862
NM_170707.4(LMNA):c.1609-3C>G	rs267607581
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	rs61444459
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952
NM_170707.4(LMNA):c.1698+1G>C	rs1553266337
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs)	rs2102901937
NM_170707.4(LMNA):c.1969-2A>T	rs1572370360
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	rs727505038
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)	rs794728602
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro)	rs1572332762
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)	rs1553262007
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)	rs794728588
NM_170707.4(LMNA):c.555_556del (p.Asp185fs)	rs1572358674
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	rs267607571
NM_170707.4(LMNA):c.575A>T (p.Asp192Val)	rs57045855
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)	rs1572358821
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	rs61195471
NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	rs1553265180
NM_170707.4(LMNA):c.639+1G>A	rs869125101
NM_170707.4(LMNA):c.662_663insAGCTGCGTGAGACCAAGCG (p.Arg221_His222insAlaAlaTer)
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile)	rs1651393059
NM_170707.4(LMNA):c.673del (p.Arg225fs)
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	rs57207746
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	rs267607573
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	rs1165819867
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	rs59332535
NM_170707.4(LMNA):c.763del (p.Gln255fs)	rs397517908
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)	rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)	rs397517909
NM_170707.4(LMNA):c.822del (p.Arg275fs)	rs2102883169
NM_170707.4(LMNA):c.859del (p.Ala287fs)	rs59564495
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	rs397517911
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)	rs397517912
NM_170707.4(LMNA):c.872A>T (p.Glu291Val)
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	rs730882262
NM_170707.4(LMNA):c.936+2T>C	rs797045011
NM_170707.4(LMNA):c.991_992del (p.Arg331fs)	rs1553265647
NM_170707.4(LMNA):c.992G>T (p.Arg331Leu)	rs59301204

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