ClinVar Miner

List of variants in gene LMNA reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP
NM_001257374.2(LMNA):c.665G>A (p.Ser222Asn) rs370656306
NM_005572.3(LMNA):c.*7G>A rs1375046973
NM_005572.3(LMNA):c.100G>A (p.Asp34Asn) rs886042491
NM_005572.3(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_005572.3(LMNA):c.111G>A (p.Glu37=) rs886038906
NM_005572.3(LMNA):c.1134G>A (p.Lys378=) rs1553265752
NM_005572.3(LMNA):c.1187A>T (p.Gln396Leu)
NM_005572.3(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1322_1333delCCGTGGAGGAGG (p.Ala441_Glu444del) rs1553265897
NM_005572.3(LMNA):c.1337A>G (p.Asp446Gly) rs58541611
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1366A>T (p.Asn456Tyr)
NM_005572.3(LMNA):c.1376A>G (p.Asn459Ser) rs372011095
NM_005572.3(LMNA):c.1415A>C (p.Gln472Pro) rs886042754
NM_005572.3(LMNA):c.1422_1424dupAGA (p.Gly474_Asp475insGlu) rs267607579
NM_005572.3(LMNA):c.1466T>G (p.Leu489Arg)
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.148C>T (p.Arg50Cys) rs59931416
NM_005572.3(LMNA):c.1490T>C (p.Ile497Thr) rs886044657
NM_005572.3(LMNA):c.149G>T (p.Arg50Leu) rs60695352
NM_005572.3(LMNA):c.1530C>T (p.Thr510=)
NM_005572.3(LMNA):c.1592_1594delTCA (p.Ile531del) rs1553266165
NM_005572.3(LMNA):c.1609-8C>T rs879253917
NM_005572.3(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_005572.3(LMNA):c.1657G>T (p.Asp553Tyr) rs373671419
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.1711_1712delCGinsTC (p.Arg571Ser) rs794728612
NM_005572.3(LMNA):c.188T>C (p.Ile63Thr) rs57793737
NM_005572.3(LMNA):c.298G>C (p.Ala100Pro) rs886044468
NM_005572.3(LMNA):c.302G>A (p.Arg101His) rs267607568
NM_005572.3(LMNA):c.320_349del30 (p.Ser107_Leu116del) rs1553262013
NM_005572.3(LMNA):c.356+1G>C rs794728589
NM_005572.3(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_005572.3(LMNA):c.451G>C (p.Ala151Pro) rs766291714
NM_005572.3(LMNA):c.48delC (p.Ser17Alafs) rs794726921
NM_005572.3(LMNA):c.493C>G (p.Leu165Val) rs1553264656
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.528A>T (p.Leu176=) rs1026599240
NM_005572.3(LMNA):c.591G>A (p.Leu197=) rs886044049
NM_005572.3(LMNA):c.640-52C>T
NM_005572.3(LMNA):c.652A>C (p.Thr218Pro) rs886042966
NM_005572.3(LMNA):c.662G>C (p.Arg221Pro) rs372567202
NM_005572.3(LMNA):c.66G>T (p.Ser22=) rs886043729
NM_005572.3(LMNA):c.755A>C (p.His252Pro)
NM_005572.3(LMNA):c.75C>T (p.Arg25=) rs80356804
NM_005572.3(LMNA):c.805G>C (p.Ala269Pro)
NM_005572.3(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005572.3(LMNA):c.866A>C (p.His289Pro)
NM_005572.3(LMNA):c.886_887insA (p.Arg296Glnfs) rs797044758
NM_005572.3(LMNA):c.937-22_937-10delAAACCCTCCCACC rs886043199
NM_170707.2(LMNA):c.-1C>A rs886043355
NM_170707.2(LMNA):c.1142_1157+1del17 rs1553265755
NM_170707.2(LMNA):c.1185G>A (p.Ser395=) rs397517890
NM_170707.2(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.2(LMNA):c.1390A>G (p.Met464Val) rs200262654
NM_170707.2(LMNA):c.1609-1G>A rs111569862
NM_170707.2(LMNA):c.162_163delGG (p.Asn56Argfs) rs879253932
NM_170707.2(LMNA):c.1698+16C>T rs773169005
NM_170707.2(LMNA):c.263C>T (p.Ala88Val) rs869025455
NM_170707.2(LMNA):c.311T>G (p.Leu104Arg) rs886042953
NM_170707.2(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.2(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.2(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.2(LMNA):c.781_783delAAG (p.Lys261del) rs58978449
NM_170707.2(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_170707.3(LMNA):c.1004G>A (p.Arg335Gln) rs138592977
NM_170707.3(LMNA):c.1051A>C (p.Arg351=) rs771623461
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1090G>A (p.Asp364Asn) rs878855231
NM_170707.3(LMNA):c.1098G>A (p.Lys366=) rs57901307
NM_170707.3(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.3(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.3(LMNA):c.1124C>A (p.Ala375Asp) rs886042239
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.3(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.1157+16G>A rs534807
NM_170707.3(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.3(LMNA):c.1158-44C>T rs141879453
NM_170707.3(LMNA):c.1162C>T (p.Arg388Cys) rs58133342
NM_170707.3(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.3(LMNA):c.1202G>A (p.Arg401His) rs141490569
NM_170707.3(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.3(LMNA):c.1255C>T (p.Arg419Cys) rs755686359
NM_170707.3(LMNA):c.1311C>T (p.Ser437=) rs763224059
NM_170707.3(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.3(LMNA):c.1315C>T (p.Arg439Cys) rs62636506
NM_170707.3(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.3(LMNA):c.139G>A (p.Asp47Asn) rs267607608
NM_170707.3(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.3(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.3(LMNA):c.1478A>C (p.Gln493Pro) rs1553266048
NM_170707.3(LMNA):c.1480G>T (p.Val494Leu) rs760277884
NM_170707.3(LMNA):c.1488+1G>A rs267607640
NM_170707.3(LMNA):c.1488+8G>A rs762836610
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.3(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.3(LMNA):c.1582A>C (p.Thr528Pro) rs1187380696
NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.3(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.3(LMNA):c.1583C>T (p.Thr528Met) rs57629361
NM_170707.3(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.1628T>C (p.Leu543Pro) rs886042329
NM_170707.3(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.3(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.3(LMNA):c.1657G>A (p.Asp553Asn) rs373671419
NM_170707.3(LMNA):c.1698+25C>T rs727504435
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.3(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.3(LMNA):c.1770C>T (p.Thr590=) rs397517896
NM_170707.3(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.3(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.3(LMNA):c.1867A>G (p.Thr623Ala) rs757888891
NM_170707.3(LMNA):c.1871G>A (p.Arg624His) rs13768
NM_170707.3(LMNA):c.1873A>C (p.Ser625Arg) rs398124550
NM_170707.3(LMNA):c.1874G>C (p.Ser625Thr) rs398124551
NM_170707.3(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.3(LMNA):c.1912G>A (p.Gly638Arg) rs144851946
NM_170707.3(LMNA):c.1919A>G (p.Asn640Ser) rs752598065
NM_170707.3(LMNA):c.192C>T (p.Thr64=) rs137969290
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.3(LMNA):c.1978A>G (p.Asn660Asp) rs374926367
NM_170707.3(LMNA):c.290A>C (p.Lys97Thr) rs1060502216
NM_170707.3(LMNA):c.302G>C (p.Arg101Pro) rs267607568
NM_170707.3(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.3(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.3(LMNA):c.497G>A (p.Arg166Gln) rs267607570
NM_170707.3(LMNA):c.498G>A (p.Arg166=) rs886043189
NM_170707.3(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.3(LMNA):c.643C>T (p.Leu215=) rs397517905
NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.3(LMNA):c.647G>A (p.Arg216His) rs757041809
NM_170707.3(LMNA):c.658C>T (p.Arg220Cys) rs370134870
NM_170707.3(LMNA):c.65_66delCGinsT (p.Ser22Phefs) rs886043745
NM_170707.3(LMNA):c.693T>G (p.Asn231Lys) rs886043393
NM_170707.3(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.3(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_170707.3(LMNA):c.78C>T (p.Ile26=) rs373721390
NM_170707.3(LMNA):c.810+13G>T rs11264444
NM_170707.3(LMNA):c.829T>C (p.Ser277Pro) rs886042122
NM_170707.3(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.3(LMNA):c.851T>C (p.Leu284Pro) rs886043260
NM_170707.3(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.3(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.3(LMNA):c.870G>A (p.Glu290=) rs747275587
NM_170707.3(LMNA):c.889A>G (p.Ile297Val) rs886043082
NM_170707.3(LMNA):c.893G>C (p.Arg298Pro) rs762653476
NM_170707.3(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.3(LMNA):c.908_909delCT (p.Ser303Cysfs) rs59684335
NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) rs60872029
NM_170707.3(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_170707.3(LMNA):c.985C>T (p.Arg329Cys) rs775159300
NM_170707.3(LMNA):c.99G>C (p.Glu33Asp) rs57966821
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.1901G>T (p.Gly634Val)
NM_170707.4(LMNA):c.1924G>A (p.Val642Ile)
NM_170707.4(LMNA):c.1968+37C>T
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925
NM_170708.3(LMNA):c.1047G>A (p.Arg349=) rs147015659
NM_170708.3(LMNA):c.1166T>C (p.Leu389Pro) rs1553265802
NM_170708.3(LMNA):c.1556C>T (p.Thr519Ile) rs753988867
NM_170708.3(LMNA):c.897C>G (p.Ile299Met) rs762718963

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