ClinVar Miner

List of variants in gene LMNA reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
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.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter) rs267607561
NM_170707.4(LMNA):c.1238del (p.Gly413fs) rs2102890051
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1409del (p.Lys470fs)
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter) rs794728595
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_170707.4(LMNA):c.1576del (p.Leu526fs)
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.244G>T (p.Glu82Ter)
NM_170707.4(LMNA):c.2T>A (p.Met1Lys)
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.561dup (p.Leu188fs)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)
NM_170707.4(LMNA):c.679del (p.Val227fs)
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.913C>T (p.Gln305Ter)
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.986dup (p.Arg329_Glu330insTer)

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