LMNA protein-altering variants in ExAC

LMNA gene summary
LMNA variants in DCM

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

* 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.