LMNA protein-altering variants in ExAC


The table below lists the LMNA protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 156106049 c.1202G>A p.R401H missense 0.00009993
2. 156107458 c.1622G>A p.R541H missense 0.00009350
3. 156084749 c.40G>A p.A14T missense 0.00007426
4. 156085059 c.350A>G p.K117R missense 0.00006893
5. 156106995 c.1580G>A p.R527H missense 0.00006832
6. 156084723 c.14C>T p.S5F missense 0.00006684
7. 156105783 c.1028G>A p.R343Q missense 0.00006651
8. 156106103 c.1256G>A p.R419H missense 0.00006629
9. 156084756 c.47C>A p.A16D missense 0.00006445
10. 156105731 c.976T>A p.S326T missense 0.00005954
11. 156085038 c.329G>A p.R110H missense 0.00005909
12. 156084858 c.149G>A p.R50H missense 0.00005835
13. 156084729 c.20G>A p.R7Q missense 0.00005705
14. 156106205 c.1358G>A p.R453Q missense 0.00005382
15. 156106223 c.1376A>G p.N459S missense 0.00005145
16. 156085031 c.322A>G p.K108E missense 0.00004829
17. 156100555 c.504G>C p.Q168H missense 0.00004644
18. 156107493 c.1657G>A p.D553N missense 0.00004620
19. 156107481 c.1645G>A p.V549M missense 0.00004612
20. 156084740 c.31C>G p.R11G missense 0.00004544
21. 156106721 c.1390A>G p.M464V missense 0.00004526
22. 156084783 c.74G>T p.R25L missense 0.00004461
23. 156105059 c.892C>T p.R298C missense 0.00004270
24. 156106036 c.1189C>T p.R397C missense 0.00004176
25. 156106043 c.1196G>A p.R399H missense 0.00004169
26. 156106126 c.1279C>T p.R427C missense 0.00004161
27. 156108880 c.1978A>G p.N660D missense 0.00004120
28. 156106171 c.1324G>A p.V442M missense 0.00004089
29. 156100548 c.497G>A p.R166Q missense 0.00004025
30. 156084851 c.142C>G p.R48G missense 0.00003932
31. 156100547 c.496C>T p.R166W missense 0.00003836
32. 156084747 c.38G>C p.G13A missense 0.00003827
33. 156108331 c.1751G>A p.R584H missense 0.00003721
34. 156084753 c.44A>C p.Q15P missense 0.00003401
35. 156105051 c.884C>T p.S295L missense 0.00003386
36. 156105759 c.1004G>A p.R335Q missense 0.00003364
37. 156106048 c.1201C>T p.R401C missense 0.00003332
38. 156104614 c.658C>T p.R220C missense 0.00003305
39. 156108897 c.1995A>G nonsense 0.00003297
40. 156106162 c.1315C>T p.R439C missense 0.00002784
41. 156108366 c.1786G>A p.D596N missense 0.00002729
42. 156108447 c.1867A>G p.T623A missense 0.00002632
43. 156108451 c.1871G>A p.R624H missense 0.00002632
44. 156108453 c.1873A>T p.S625C missense 0.00002625
45. 156108453 c.1873A>C p.S625R missense 0.00002625
46. 156108454 c.1874G>C p.S625T missense 0.00002624
47. 156108491 c.1911C>A p.F637L missense 0.00002584
48. 156106147 c.1300G>A p.A434T missense 0.00002577
49. 156108540 c.1960C>T p.R654X nonsense 0.00002574
50. 156106742 c.1411C>T p.R471C missense 0.00002562
51. 156105741 c.986G>A p.R329H missense 0.00002541
52. 156106037 c.1190G>A p.R397H missense 0.00002505
53. 156106079 c.1232G>A p.G411D missense 0.00002489
54. 156106090 c.1243G>A p.V415I missense 0.00002486
55. 156104615 c.659G>A p.R220H missense 0.00002478
56. 156100518 c.467G>A p.R156H missense 0.00002431
57. 156100517 c.466C>T p.R156C missense 0.00002364
58. 156107019 c.1604G>A p.G535E missense 0.00002271
59. 156107016 c.1601C>G p.T534S missense 0.00002182
60. 156107003 c.1588C>G p.L530V missense 0.00001899
61. 156100541 c.490G>C p.D164H missense 0.00001746
62. 156108459 c.1879C>T p.R627C missense 0.00001746
63. 156108499 c.1919A>G p.N640S missense 0.00001715
64. 156105740 c.985C>A p.R329S missense 0.00001696
65. 156105747 c.992G>A p.R331Q missense 0.00001690
66. 156106034 c.1187A>T p.Q396L missense 0.00001671
67. 156106131 c.1284C>G p.S428R missense 0.00001670
68. 156105771 c.1016C>A p.A339E missense 0.00001670
69. 156106078 c.1231G>T p.G411C missense 0.00001660
70. 156105015 c.848A>G p.N283S missense 0.00001659
71. 156100445 c.394G>T p.A132S missense 0.00001656
72. 156104245 c.565C>T p.R189W missense 0.00001650
73. 156104278 c.598A>G p.M200V missense 0.00001649
74. 156104660 c.704G>A p.R235H missense 0.00001648
75. 156100530 c.479G>A p.G160D missense 0.00001430
76. 156100529 c.478G>C p.G160R missense 0.00001414
77. 156084924 c.215G>A p.R72H missense 0.00001396
78. 156100521 c.470C>T p.T157M missense 0.00001310
79. 156106971 c.1556C>T p.T519I missense 0.00001264
80. 156084935 c.226G>A p.G76S missense 0.00001261
81. 156084948 c.239C>T p.A80V missense 0.00001152
82. 156100515 c.464A>C p.K155T missense 0.00001151
83. 156106185 c.1338T>A p.D446E missense 0.00001133
84. 156106185 c.1338T>G p.D446E missense 0.00001133
85. 156085049 c.340A>G p.K114E missense 0.00001075
86. 156106177 c.1330G>A p.E444K missense 0.00001071
87. 156084966 c.257G>A p.G86E missense 0.00001041
88. 156106946 c.1531G>A p.D511N missense 0.00001021
89. 156100502 c.451G>A p.A151T missense 0.00000986
90. 156106940 c.1525C>T p.P509S missense 0.00000979
91. 156084996 c.287C>G p.A96G missense 0.00000966
92. 156106712 c.1381G>T p.D461Y missense 0.00000959
93. 156108328 c.1748C>T p.S583L missense 0.00000933
94. 156100490 c.439G>T p.A147S missense 0.00000931
95. 156100490 c.439G>A p.A147T missense 0.00000931
96. 156108330 c.1750C>T p.R584C missense 0.00000930
97. 156108336 c.1756G>A p.V586M missense 0.00000926
98. 156108345 c.1765G>A p.G589R missense 0.00000923
99. 156106719 c.1388C>T p.S463F missense 0.00000916
100. 156108373 c.1793C>G p.A598G missense 0.00000906
101. 156106159 c.1312G>A p.G438R missense 0.00000906
102. 156106925 c.1510G>A p.A504T missense 0.00000902
103. 156106723 c.1392G>A p.M464I missense 0.00000897
104. 156108414 c.1834T>C p.S612P missense 0.00000890
105. 156108417 c.1837T>C p.S613P missense 0.00000889
106. 156105087 c.920G>C p.S307T missense 0.00000889
107. 156106154 c.1307C>T p.T436I missense 0.00000888
108. 156106922 c.1507G>A p.G503R missense 0.00000881
109. 156108450 c.1870C>T p.R624C missense 0.00000879
110. 156108442 c.1862C>T p.T621M missense 0.00000879
111. 156108466 c.1886T>G p.V629G missense 0.00000872
112. 156108460 c.1880G>A p.R627H missense 0.00000872
113. 156108460 c.1880G>C p.R627P missense 0.00000872
114. 156108466 c.1886_1887insG p.Ser632GlnfsTer72 frameshift 0.00000872
115. 156108462 c.1882A>C p.S628R missense 0.00000871
116. 156108469 c.1889G>T p.G630V missense 0.00000869
117. 156108472 c.1892G>A p.G631D missense 0.00000868
118. 156106150 c.1303C>T p.R435C missense 0.00000863
119. 156105069 c.902G>C p.S301T missense 0.00000863
120. 156108489 c.1909T>G p.F637V missense 0.00000862
121. 156105064 c.897C>G p.I299M missense 0.00000859
122. 156108504 c.1924G>A p.V642I missense 0.00000858
123. 156108541 c.1961G>A p.R654Q missense 0.00000858
124. 156108508 c.1928C>T p.T643I missense 0.00000857
125. 156105756 c.1001G>A p.S334N missense 0.00000842
126. 156105762 c.1007G>A p.R336Q missense 0.00000839
127. 156106010 c.1163G>A p.R388H missense 0.00000837
128. 156106028 c.1181C>T p.T394I missense 0.00000836
129. 156106031 c.1184C>T p.S395L missense 0.00000836
130. 156106042 c.1195C>T p.R399C missense 0.00000834
131. 156106051 c.1204G>A p.A402T missense 0.00000832
132. 156106776 c.1445G>A p.R482Q missense 0.00000832
133. 156105782 c.1027C>T p.R343W missense 0.00000832
134. 156105020 c.853G>T p.V285L missense 0.00000830
135. 156106109 c.1262T>C p.L421P missense 0.00000829
136. 156106102 c.1255C>T p.R419C missense 0.00000829
137. 156106084 c.1237G>A p.G413S missense 0.00000829
138. 156106084 c.1237G>T p.G413C missense 0.00000829
139. 156106094 c.1247C>T p.T416I missense 0.00000829
140. 156106818 c.1487C>T p.T496M missense 0.00000828
141. 156104586 c.640-10A>G p.Glu213_glu214insProPheGln inframe 0.00000828
142. 156105807 c.1052G>A p.R351K missense 0.00000828
143. 156106811 c.1480G>T p.V494L missense 0.00000828
144. 156106805 c.1474G>A p.G492R missense 0.00000828
145. 156105818 c.1063C>G p.Q355E missense 0.00000828
146. 156100413 c.362C>T p.T121I missense 0.00000828
147. 156104201 c.521C>A p.A174E missense 0.00000827
148. 156100434 c.383T>C p.I128T missense 0.00000827
149. 156104603 c.647G>A p.R216H missense 0.00000827
150. 156100437 c.386C>A p.A129D missense 0.00000827
151. 156104984 c.817A>G p.N273D missense 0.00000827
152. 156104611 c.655A>C p.K219Q missense 0.00000826
153. 156104612 c.656A>G p.K219R missense 0.00000826
154. 156104681 c.725C>T p.A242V missense 0.00000825
155. 156104302 c.622A>C p.K208Q missense 0.00000825
156. 156104227 c.547C>T p.L183F missense 0.00000825
157. 156104715 c.759G>C p.E253D missense 0.00000825
158. 156104246 c.566G>A p.R189Q missense 0.00000825
159. 156104618 c.662G>A p.R221H missense 0.00000825
160. 156104743 c.787C>G p.L263V missense 0.00000825
161. 156104674 c.718C>T p.R240W missense 0.00000825
162. 156104659 c.703C>G p.R235G missense 0.00000824
163. 156108889 c.1987A>G p.I663V missense 0.00000824
164. 156108892 c.1990A>T p.M664L missense 0.00000824
165. 156104645 c.689A>G p.D230G missense 0.00000824
166. 156104659 c.703C>T p.R235C missense 0.00000824
167. 156104648 c.692A>G p.N231S missense 0.00000824

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.