LMNA variants in ExAC

LMNA gene summary
LMNA variants in DCM

The table below lists the LMNA variants found in the ExAC population database. 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 frequency▼Populations*
1. 156107534 c.1698C>T p.H566H splice site 0.26550464●●●●●●
2. 156100408 c.357C>T p.R119R splice site 0.00318909●●●●●●
3. 156108510 c.1930C>T p.R644C missense 0.00124272●●●●●●
4. 156105062 c.895A>G p.I299V missense 0.00040242●●●●●●
5. 156108384 c.1804G>A p.G602S missense 0.00026163●●●●●●
6. 156106827 c.1488+8G>A splice site 0.00020710●●●●●●
7. 156107470 c.1634G>A p.R545H missense 0.00018541●●●●●●
8. 156108492 c.1912G>A p.G638R missense 0.00014631●●●●●●
9. 156108511 c.1931G>A p.R644H missense 0.00011994●●●●●●
10. 156106982 c.1567G>A p.G523R missense 0.00011230●●●●●●
11. 156108298 c.1718C>T p.S573L missense 0.00010553●●●●●●
12. 156106049 c.1202G>A p.R401H missense 0.00009993●●●●●●
13. 156107458 c.1622G>A p.R541H missense 0.00009350●●●●●●
14. 156084749 c.40G>A p.A14T missense 0.00007426●●●●●●
15. 156106707 c.1381-5G>A splice site 0.00007132●●●●●●
16. 156085059 c.350A>G p.K117R missense 0.00006893●●●●●●
17. 156106995 c.1580G>A p.R527H missense 0.00006832●●●●●●
18. 156084723 c.14C>T p.S5F missense 0.00006684●●●●●●
19. 156105783 c.1028G>A p.R343Q missense 0.00006651●●●●●●
20. 156106103 c.1256G>A p.R419H missense 0.00006629●●●●●●
21. 156084756 c.47C>A p.A16D missense 0.00006445●●●●●●
22. 156106706 c.1381-6C>T splice site 0.00006217●●●●●●
23. 156105731 c.976T>A p.S326T missense 0.00005954●●●●●●
24. 156085038 c.329G>A p.R110H missense 0.00005909●●●●●●
25. 156084858 c.149G>A p.R50H missense 0.00005835●●●●●●
26. 156084729 c.20G>A p.R7Q missense 0.00005705●●●●●●
27. 156106205 c.1358G>A p.R453Q missense 0.00005382●●●●●●
28. 156106223 c.1376A>G p.N459S missense 0.00005145●●●●●●
29. 156105915 c.1157+3G>A splice site 0.00004984●●●●●●
30. 156085031 c.322A>G p.K108E missense 0.00004829●●●●●●
31. 156100555 c.504G>C p.Q168H missense 0.00004644●●●●●●
32. 156107493 c.1657G>A p.D553N missense 0.00004620●●●●●●
33. 156107481 c.1645G>A p.V549M missense 0.00004612●●●●●●
34. 156084740 c.31C>G p.R11G missense 0.00004544●●●●●●
35. 156106721 c.1390A>G p.M464V missense 0.00004526●●●●●●
36. 156084783 c.74G>T p.R25L missense 0.00004461●●●●●●
37. 156105059 c.892C>T p.R298C missense 0.00004270●●●●●●
38. 156106036 c.1189C>T p.R397C missense 0.00004176●●●●●●
39. 156106043 c.1196G>A p.R399H missense 0.00004169●●●●●●
40. 156106126 c.1279C>T p.R427C missense 0.00004161●●●●●●
41. 156106825 c.1488+6T>G splice site 0.00004142●●●●●●
42. 156106819 c.1488G>A p.T496T splice site 0.00004141●●●●●●
43. 156108880 c.1978A>G p.N660D missense 0.00004120●●●●●●
44. 156106171 c.1324G>A p.V442M missense 0.00004089●●●●●●
45. 156100548 c.497G>A p.R166Q missense 0.00004025●●●●●●
46. 156084851 c.142C>G p.R48G missense 0.00003932●●●●●●
47. 156100547 c.496C>T p.R166W missense 0.00003836●●●●●●
48. 156084747 c.38G>C p.G13A missense 0.00003827●●●●●●
49. 156108331 c.1751G>A p.R584H missense 0.00003721●●●●●●
50. 156084753 c.44A>C p.Q15P missense 0.00003401●●●●●●
51. 156105051 c.884C>T p.S295L missense 0.00003386●●●●●●
52. 156105759 c.1004G>A p.R335Q missense 0.00003364●●●●●●
53. 156106048 c.1201C>T p.R401C missense 0.00003332●●●●●●
54. 156104614 c.658C>T p.R220C missense 0.00003305●●●●●●
55. 156108897 c.1995A>G nonsense 0.00003297●●●●●●
56. 156106235 c.1380+8C>T splice site 0.00003274●●●●●●
57. 156106162 c.1315C>T p.R439C missense 0.00002784●●●●●●
58. 156108366 c.1786G>A p.D596N missense 0.00002729●●●●●●
59. 156108447 c.1867A>G p.T623A missense 0.00002632●●●●●●
60. 156108451 c.1871G>A p.R624H missense 0.00002632●●●●●●
61. 156108453 c.1873A>T p.S625C missense 0.00002625●●●●●●
62. 156108453 c.1873A>C p.S625R missense 0.00002625●●●●●●
63. 156108454 c.1874G>C p.S625T missense 0.00002624●●●●●●
64. 156108491 c.1911C>A p.F637L missense 0.00002584●●●●●●
65. 156106147 c.1300G>A p.A434T missense 0.00002577●●●●●●
66. 156108540 c.1960C>T p.R654X nonsense 0.00002574●●●●●●
67. 156106742 c.1411C>T p.R471C missense 0.00002562●●●●●●
68. 156105741 c.986G>A p.R329H missense 0.00002541●●●●●●
69. 156106037 c.1190G>A p.R397H missense 0.00002505●●●●●●
70. 156106079 c.1232G>A p.G411D missense 0.00002489●●●●●●
71. 156106090 c.1243G>A p.V415I missense 0.00002486●●●●●●
72. 156104970 c.811-8C>T splice site 0.00002480●●●●●●
73. 156104615 c.659G>A p.R220H missense 0.00002478●●●●●●
74. 156108867 c.1969-4T>C splice site 0.00002472●●●●●●
75. 156100518 c.467G>A p.R156H missense 0.00002431●●●●●●
76. 156100517 c.466C>T p.R156C missense 0.00002364●●●●●●
77. 156107019 c.1604G>A p.G535E missense 0.00002271●●●●●●
78. 156107016 c.1601C>G p.T534S missense 0.00002182●●●●●●
79. 156107003 c.1588C>G p.L530V missense 0.00001899●●●●●●
80. 156105684 c.937-8C>G splice site 0.00001798●●●●●●
81. 156100541 c.490G>C p.D164H missense 0.00001746●●●●●●
82. 156108459 c.1879C>T p.R627C missense 0.00001746●●●●●●
83. 156108499 c.1919A>G p.N640S missense 0.00001715●●●●●●
84. 156105740 c.985C>A p.R329S missense 0.00001696●●●●●●
85. 156105747 c.992G>A p.R331Q missense 0.00001690●●●●●●
86. 156106034 c.1187A>T p.Q396L missense 0.00001671●●●●●●
87. 156105771 c.1016C>A p.A339E missense 0.00001670●●●●●●
88. 156106131 c.1284C>G p.S428R missense 0.00001670●●●●●●
89. 156106078 c.1231G>T p.G411C missense 0.00001660●●●●●●
90. 156105015 c.848A>G p.N283S missense 0.00001659●●●●●●
91. 156100445 c.394G>T p.A132S missense 0.00001656●●●●●●
92. 156104245 c.565C>T p.R189W missense 0.00001650●●●●●●
93. 156104278 c.598A>G p.M200V missense 0.00001649●●●●●●
94. 156104660 c.704G>A p.R235H missense 0.00001648●●●●●●
95. 156100530 c.479G>A p.G160D missense 0.00001430●●●●●●
96. 156100529 c.478G>C p.G160R missense 0.00001414●●●●●●
97. 156084924 c.215G>A p.R72H missense 0.00001396●●●●●●
98. 156085074 c.356+9G>T splice site 0.00001326●●●●●●
99. 156100521 c.470C>T p.T157M missense 0.00001310●●●●●●
100. 156106971 c.1556C>T p.T519I missense 0.00001264●●●●●●
101. 156084935 c.226G>A p.G76S missense 0.00001261●●●●●●
102. 156084948 c.239C>T p.A80V missense 0.00001152●●●●●●
103. 156100515 c.464A>C p.K155T missense 0.00001151●●●●●●
104. 156106185 c.1338T>G p.D446E missense 0.00001133●●●●●●
105. 156106185 c.1338T>A p.D446E missense 0.00001133●●●●●●
106. 156085049 c.340A>G p.K114E missense 0.00001075●●●●●●
107. 156106177 c.1330G>A p.E444K missense 0.00001071●●●●●●
108. 156084966 c.257G>A p.G86E missense 0.00001041●●●●●●
109. 156108271 c.1699-8C>G splice site 0.00001036●●●●●●
110. 156108272 c.1699-7T>C splice site 0.00001031●●●●●●
111. 156106946 c.1531G>A p.D511N missense 0.00001021●●●●●●
112. 156106708 c.1381-4G>A splice site 0.00001007●●●●●●
113. 156100502 c.451G>A p.A151T missense 0.00000986●●●●●●
114. 156106940 c.1525C>T p.P509S missense 0.00000979●●●●●●
115. 156084996 c.287C>G p.A96G missense 0.00000966●●●●●●
116. 156105110 c.936+7C>T splice site 0.00000965●●●●●●
117. 156106712 c.1381G>T p.D461Y missense 0.00000959●●●●●●
118. 156108328 c.1748C>T p.S583L missense 0.00000933●●●●●●
119. 156100490 c.439G>A p.A147T missense 0.00000931●●●●●●
120. 156100490 c.439G>T p.A147S missense 0.00000931●●●●●●
121. 156108330 c.1750C>T p.R584C missense 0.00000930●●●●●●
122. 156108336 c.1756G>A p.V586M missense 0.00000926●●●●●●
123. 156108345 c.1765G>A p.G589R missense 0.00000923●●●●●●
124. 156106719 c.1388C>T p.S463F missense 0.00000916●●●●●●
125. 156108373 c.1793C>G p.A598G missense 0.00000906●●●●●●
126. 156106159 c.1312G>A p.G438R missense 0.00000906●●●●●●
127. 156106925 c.1510G>A p.A504T missense 0.00000902●●●●●●
128. 156105684 c.937-8C>A splice site 0.00000899●●●●●●
129. 156106723 c.1392G>A p.M464I missense 0.00000897●●●●●●
130. 156105686 c.937-6C>T splice site 0.00000895●●●●●●
131. 156105686 c.937-6C>G splice site 0.00000895●●●●●●
132. 156108414 c.1834T>C p.S612P missense 0.00000890●●●●●●
133. 156108417 c.1837T>C p.S613P missense 0.00000889●●●●●●
134. 156105087 c.920G>C p.S307T missense 0.00000889●●●●●●
135. 156106154 c.1307C>T p.T436I missense 0.00000888●●●●●●
136. 156106922 c.1507G>A p.G503R missense 0.00000881●●●●●●
137. 156108450 c.1870C>T p.R624C missense 0.00000879●●●●●●
138. 156108442 c.1862C>T p.T621M missense 0.00000879●●●●●●
139. 156108460 c.1880G>C p.R627P missense 0.00000872●●●●●●
140. 156108466 c.1886_1887insG p.Ser632GlnfsTer72 frameshift 0.00000872●●●●●●
141. 156108466 c.1886T>G p.V629G missense 0.00000872●●●●●●
142. 156108460 c.1880G>A p.R627H missense 0.00000872●●●●●●
143. 156108462 c.1882A>C p.S628R missense 0.00000871●●●●●●
144. 156108469 c.1889G>T p.G630V missense 0.00000869●●●●●●
145. 156108472 c.1892G>A p.G631D missense 0.00000868●●●●●●
146. 156105069 c.902G>C p.S301T missense 0.00000863●●●●●●
147. 156106150 c.1303C>T p.R435C missense 0.00000863●●●●●●
148. 156108489 c.1909T>G p.F637V missense 0.00000862●●●●●●
149. 156105064 c.897C>G p.I299M missense 0.00000859●●●●●●
150. 156108541 c.1961G>A p.R654Q missense 0.00000858●●●●●●
151. 156108504 c.1924G>A p.V642I missense 0.00000858●●●●●●
152. 156108508 c.1928C>T p.T643I missense 0.00000857●●●●●●
153. 156105756 c.1001G>A p.S334N missense 0.00000842●●●●●●
154. 156105762 c.1007G>A p.R336Q missense 0.00000839●●●●●●
155. 156106010 c.1163G>A p.R388H missense 0.00000837●●●●●●
156. 156106031 c.1184C>T p.S395L missense 0.00000836●●●●●●
157. 156106028 c.1181C>T p.T394I missense 0.00000836●●●●●●
158. 156106042 c.1195C>T p.R399C missense 0.00000834●●●●●●
159. 156106776 c.1445G>A p.R482Q missense 0.00000832●●●●●●
160. 156105782 c.1027C>T p.R343W missense 0.00000832●●●●●●
161. 156106051 c.1204G>A p.A402T missense 0.00000832●●●●●●
162. 156105920 c.1157+8delG splice site 0.00000831●●●●●●
163. 156105020 c.853G>T p.V285L missense 0.00000830●●●●●●
164. 156106084 c.1237G>A p.G413S missense 0.00000829●●●●●●
165. 156106084 c.1237G>T p.G413C missense 0.00000829●●●●●●
166. 156106109 c.1262T>C p.L421P missense 0.00000829●●●●●●
167. 156106094 c.1247C>T p.T416I missense 0.00000829●●●●●●
168. 156106102 c.1255C>T p.R419C missense 0.00000829●●●●●●
169. 156106826 c.1488+7G>A splice site 0.00000828●●●●●●
170. 156104586 c.640-10A>G p.Glu213_glu214insProPheGln inframe 0.00000828●●●●●●
171. 156106805 c.1474G>A p.G492R missense 0.00000828●●●●●●
172. 156105807 c.1052G>A p.R351K missense 0.00000828●●●●●●
173. 156106811 c.1480G>T p.V494L missense 0.00000828●●●●●●
174. 156100413 c.362C>T p.T121I missense 0.00000828●●●●●●
175. 156105818 c.1063C>G p.Q355E missense 0.00000828●●●●●●
176. 156106818 c.1487C>T p.T496M missense 0.00000828●●●●●●
177. 156104603 c.647G>A p.R216H missense 0.00000827●●●●●●
178. 156100437 c.386C>A p.A129D missense 0.00000827●●●●●●
179. 156104984 c.817A>G p.N273D missense 0.00000827●●●●●●
180. 156104201 c.521C>A p.A174E missense 0.00000827●●●●●●
181. 156100434 c.383T>C p.I128T missense 0.00000827●●●●●●
182. 156104611 c.655A>C p.K219Q missense 0.00000826●●●●●●
183. 156104770 c.810+4C>A splice site 0.00000826●●●●●●
184. 156104612 c.656A>G p.K219R missense 0.00000826●●●●●●
185. 156104715 c.759G>C p.E253D missense 0.00000825●●●●●●
186. 156104324 c.639+5G>C splice site 0.00000825●●●●●●
187. 156104246 c.566G>A p.R189Q missense 0.00000825●●●●●●
188. 156104618 c.662G>A p.R221H missense 0.00000825●●●●●●
189. 156104674 c.718C>T p.R240W missense 0.00000825●●●●●●
190. 156104743 c.787C>G p.L263V missense 0.00000825●●●●●●
191. 156104227 c.547C>T p.L183F missense 0.00000825●●●●●●
192. 156104681 c.725C>T p.A242V missense 0.00000825●●●●●●
193. 156104302 c.622A>C p.K208Q missense 0.00000825●●●●●●
194. 156108892 c.1990A>T p.M664L missense 0.00000824●●●●●●
195. 156104645 c.689A>G p.D230G missense 0.00000824●●●●●●
196. 156104659 c.703C>T p.R235C missense 0.00000824●●●●●●
197. 156104648 c.692A>G p.N231S missense 0.00000824●●●●●●
198. 156108889 c.1987A>G p.I663V missense 0.00000824●●●●●●
199. 156104659 c.703C>G p.R235G 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.