ClinVar Miner

List of variants in gene LMNA reported by Ambry Genetics

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Gene type:
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Total variants: 76
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HGVS dbSNP
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys) rs1354642495
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1157+1G>A rs267607590
NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr) rs267607545
NM_170707.4(LMNA):c.1185G>T (p.Ser395=) rs397517890
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1426G>T (p.Asp476Tyr) rs886039032
NM_170707.4(LMNA):c.149G>A (p.Arg50His) rs60695352
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter) rs149339264
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.4(LMNA):c.1608+5G>A rs267607539
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.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1637C>T (p.Ser546Leu) rs886038995
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.4(LMNA):c.1698+13_1698+14delinsTC rs794728612
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1890G>C (p.Gly630=) rs770389147
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.4(LMNA):c.207G>C (p.Val69=) rs886038801
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp) rs1553261972
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.42G>A (p.Ala14=) rs777460187
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_170707.4(LMNA):c.480C>T (p.Gly160=) rs758848135
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.729T>C (p.Asp243=) rs753243743
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) rs59914820
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu) rs769210828
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_170707.4(LMNA):c.990G>A (p.Glu330=) rs140800215

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