LMNA non-truncating variants in ExAC

LMNA gene summary
LMNA variants in DCM

The table below lists the LMNA non-truncating 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 frequency▼Populations*
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. 156106162 c.1315C>T p.R439C missense 0.00002784●●●●●●
40. 156108366 c.1786G>A p.D596N missense 0.00002729●●●●●●
41. 156108447 c.1867A>G p.T623A missense 0.00002632●●●●●●
42. 156108451 c.1871G>A p.R624H missense 0.00002632●●●●●●
43. 156108453 c.1873A>T p.S625C missense 0.00002625●●●●●●
44. 156108453 c.1873A>C p.S625R missense 0.00002625●●●●●●
45. 156108454 c.1874G>C p.S625T missense 0.00002624●●●●●●
46. 156108491 c.1911C>A p.F637L missense 0.00002584●●●●●●
47. 156106147 c.1300G>A p.A434T missense 0.00002577●●●●●●
48. 156106742 c.1411C>T p.R471C missense 0.00002562●●●●●●
49. 156105741 c.986G>A p.R329H missense 0.00002541●●●●●●
50. 156106037 c.1190G>A p.R397H missense 0.00002505●●●●●●
51. 156106079 c.1232G>A p.G411D missense 0.00002489●●●●●●
52. 156106090 c.1243G>A p.V415I missense 0.00002486●●●●●●
53. 156104615 c.659G>A p.R220H missense 0.00002478●●●●●●
54. 156100518 c.467G>A p.R156H missense 0.00002431●●●●●●
55. 156100517 c.466C>T p.R156C missense 0.00002364●●●●●●
56. 156107019 c.1604G>A p.G535E missense 0.00002271●●●●●●
57. 156107016 c.1601C>G p.T534S missense 0.00002182●●●●●●
58. 156107003 c.1588C>G p.L530V missense 0.00001899●●●●●●
59. 156100541 c.490G>C p.D164H missense 0.00001746●●●●●●
60. 156108459 c.1879C>T p.R627C missense 0.00001746●●●●●●
61. 156108499 c.1919A>G p.N640S missense 0.00001715●●●●●●
62. 156105740 c.985C>A p.R329S missense 0.00001696●●●●●●
63. 156105747 c.992G>A p.R331Q missense 0.00001690●●●●●●
64. 156106034 c.1187A>T p.Q396L missense 0.00001671●●●●●●
65. 156105771 c.1016C>A p.A339E missense 0.00001670●●●●●●
66. 156106131 c.1284C>G p.S428R missense 0.00001670●●●●●●
67. 156106078 c.1231G>T p.G411C missense 0.00001660●●●●●●
68. 156105015 c.848A>G p.N283S missense 0.00001659●●●●●●
69. 156100445 c.394G>T p.A132S missense 0.00001656●●●●●●
70. 156104245 c.565C>T p.R189W missense 0.00001650●●●●●●
71. 156104278 c.598A>G p.M200V missense 0.00001649●●●●●●
72. 156104660 c.704G>A p.R235H missense 0.00001648●●●●●●
73. 156100530 c.479G>A p.G160D missense 0.00001430●●●●●●
74. 156100529 c.478G>C p.G160R missense 0.00001414●●●●●●
75. 156084924 c.215G>A p.R72H missense 0.00001396●●●●●●
76. 156100521 c.470C>T p.T157M missense 0.00001310●●●●●●
77. 156106971 c.1556C>T p.T519I missense 0.00001264●●●●●●
78. 156084935 c.226G>A p.G76S missense 0.00001261●●●●●●
79. 156084948 c.239C>T p.A80V missense 0.00001152●●●●●●
80. 156100515 c.464A>C p.K155T missense 0.00001151●●●●●●
81. 156106185 c.1338T>A p.D446E missense 0.00001133●●●●●●
82. 156106185 c.1338T>G p.D446E missense 0.00001133●●●●●●
83. 156085049 c.340A>G p.K114E missense 0.00001075●●●●●●
84. 156106177 c.1330G>A p.E444K missense 0.00001071●●●●●●
85. 156084966 c.257G>A p.G86E missense 0.00001041●●●●●●
86. 156106946 c.1531G>A p.D511N missense 0.00001021●●●●●●
87. 156100502 c.451G>A p.A151T missense 0.00000986●●●●●●
88. 156106940 c.1525C>T p.P509S missense 0.00000979●●●●●●
89. 156084996 c.287C>G p.A96G missense 0.00000966●●●●●●
90. 156106712 c.1381G>T p.D461Y missense 0.00000959●●●●●●
91. 156108328 c.1748C>T p.S583L missense 0.00000933●●●●●●
92. 156100490 c.439G>T p.A147S missense 0.00000931●●●●●●
93. 156100490 c.439G>A p.A147T missense 0.00000931●●●●●●
94. 156108330 c.1750C>T p.R584C missense 0.00000930●●●●●●
95. 156108336 c.1756G>A p.V586M missense 0.00000926●●●●●●
96. 156108345 c.1765G>A p.G589R missense 0.00000923●●●●●●
97. 156106719 c.1388C>T p.S463F missense 0.00000916●●●●●●
98. 156108373 c.1793C>G p.A598G missense 0.00000906●●●●●●
99. 156106159 c.1312G>A p.G438R missense 0.00000906●●●●●●
100. 156106925 c.1510G>A p.A504T missense 0.00000902●●●●●●
101. 156106723 c.1392G>A p.M464I missense 0.00000897●●●●●●
102. 156108414 c.1834T>C p.S612P missense 0.00000890●●●●●●
103. 156108417 c.1837T>C p.S613P missense 0.00000889●●●●●●
104. 156105087 c.920G>C p.S307T missense 0.00000889●●●●●●
105. 156106154 c.1307C>T p.T436I missense 0.00000888●●●●●●
106. 156106922 c.1507G>A p.G503R missense 0.00000881●●●●●●
107. 156108450 c.1870C>T p.R624C missense 0.00000879●●●●●●
108. 156108442 c.1862C>T p.T621M missense 0.00000879●●●●●●
109. 156108466 c.1886T>G p.V629G missense 0.00000872●●●●●●
110. 156108460 c.1880G>A p.R627H missense 0.00000872●●●●●●
111. 156108460 c.1880G>C p.R627P missense 0.00000872●●●●●●
112. 156108462 c.1882A>C p.S628R missense 0.00000871●●●●●●
113. 156108469 c.1889G>T p.G630V missense 0.00000869●●●●●●
114. 156108472 c.1892G>A p.G631D missense 0.00000868●●●●●●
115. 156105069 c.902G>C p.S301T missense 0.00000863●●●●●●
116. 156106150 c.1303C>T p.R435C missense 0.00000863●●●●●●
117. 156108489 c.1909T>G p.F637V missense 0.00000862●●●●●●
118. 156105064 c.897C>G p.I299M missense 0.00000859●●●●●●
119. 156108504 c.1924G>A p.V642I missense 0.00000858●●●●●●
120. 156108541 c.1961G>A p.R654Q missense 0.00000858●●●●●●
121. 156108508 c.1928C>T p.T643I missense 0.00000857●●●●●●
122. 156105756 c.1001G>A p.S334N missense 0.00000842●●●●●●
123. 156105762 c.1007G>A p.R336Q missense 0.00000839●●●●●●
124. 156106010 c.1163G>A p.R388H missense 0.00000837●●●●●●
125. 156106031 c.1184C>T p.S395L missense 0.00000836●●●●●●
126. 156106028 c.1181C>T p.T394I missense 0.00000836●●●●●●
127. 156106042 c.1195C>T p.R399C missense 0.00000834●●●●●●
128. 156106051 c.1204G>A p.A402T missense 0.00000832●●●●●●
129. 156106776 c.1445G>A p.R482Q missense 0.00000832●●●●●●
130. 156105782 c.1027C>T p.R343W missense 0.00000832●●●●●●
131. 156105020 c.853G>T p.V285L missense 0.00000830●●●●●●
132. 156106094 c.1247C>T p.T416I missense 0.00000829●●●●●●
133. 156106102 c.1255C>T p.R419C missense 0.00000829●●●●●●
134. 156106109 c.1262T>C p.L421P missense 0.00000829●●●●●●
135. 156106084 c.1237G>A p.G413S missense 0.00000829●●●●●●
136. 156106084 c.1237G>T p.G413C missense 0.00000829●●●●●●
137. 156105818 c.1063C>G p.Q355E missense 0.00000828●●●●●●
138. 156106805 c.1474G>A p.G492R missense 0.00000828●●●●●●
139. 156100413 c.362C>T p.T121I missense 0.00000828●●●●●●
140. 156106818 c.1487C>T p.T496M missense 0.00000828●●●●●●
141. 156105807 c.1052G>A p.R351K missense 0.00000828●●●●●●
142. 156106811 c.1480G>T p.V494L missense 0.00000828●●●●●●
143. 156104586 c.640-10A>G p.Glu213_glu214insProPheGln inframe 0.00000828●●●●●●
144. 156104984 c.817A>G p.N273D missense 0.00000827●●●●●●
145. 156104201 c.521C>A p.A174E missense 0.00000827●●●●●●
146. 156100434 c.383T>C p.I128T missense 0.00000827●●●●●●
147. 156104603 c.647G>A p.R216H missense 0.00000827●●●●●●
148. 156100437 c.386C>A p.A129D missense 0.00000827●●●●●●
149. 156104612 c.656A>G p.K219R missense 0.00000826●●●●●●
150. 156104611 c.655A>C p.K219Q missense 0.00000826●●●●●●
151. 156104302 c.622A>C p.K208Q missense 0.00000825●●●●●●
152. 156104681 c.725C>T p.A242V missense 0.00000825●●●●●●
153. 156104227 c.547C>T p.L183F missense 0.00000825●●●●●●
154. 156104715 c.759G>C p.E253D missense 0.00000825●●●●●●
155. 156104246 c.566G>A p.R189Q missense 0.00000825●●●●●●
156. 156104743 c.787C>G p.L263V missense 0.00000825●●●●●●
157. 156104674 c.718C>T p.R240W missense 0.00000825●●●●●●
158. 156104618 c.662G>A p.R221H missense 0.00000825●●●●●●
159. 156104659 c.703C>T p.R235C missense 0.00000824●●●●●●
160. 156104659 c.703C>G p.R235G missense 0.00000824●●●●●●
161. 156108889 c.1987A>G p.I663V missense 0.00000824●●●●●●
162. 156108892 c.1990A>T p.M664L missense 0.00000824●●●●●●
163. 156104645 c.689A>G p.D230G missense 0.00000824●●●●●●
164. 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.