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

* 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.