LIPC variants in ExAC

LIPC gene summary
LIPC variants in

The table below lists the LIPC 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. 58853079 c.1068C>A p.F356L missense 0.96874845●●●●●●
2. 58838010 c.644A>G p.N215S missense 0.47025339●●●●●●
3. 58833993 c.283G>A p.V95M missense 0.07439992●●●●●●
4. 58837933 c.575-8C>A splice site 0.02800779●●●●●●
5. 58853075 c.1064A>G p.Q355R missense 0.00352865●●●●●●
6. 58855748 c.1214C>T p.T405M missense 0.00275947●●●●●●
7. 58840586 c.866C>T p.S289F missense 0.00119278●●●●●●
8. 58853053 c.1052-10C>G splice site 0.00064602●●●●●●
9. 58855772 c.1238T>C p.L413P missense 0.00062602●●●●●●
10. 58830528 c.89-4G>A splice site 0.00060959●●●●●●
11. 58855760 c.1226A>C p.D409A missense 0.00057660●●●●●●
12. 58860941 c.1415A>T p.D472V missense 0.00048652●●●●●●
13. 58834113 c.403C>T p.R135C missense 0.00046790●●●●●●
14. 58837989 c.623G>A p.R208H missense 0.00033772●●●●●●
15. 58838103 c.737_738insCG p.G247Afs*12 frameshift 0.00029653●●●●●●
16. 58840535 c.815C>T p.T272I missense 0.00028309●●●●●●
17. 58860956 c.1430G>A p.R477H missense 0.00021515●●●●●●
18. 58834042 c.332C>T p.P111L missense 0.00020991●●●●●●
19. 58724327 c.88+8C>A splice site 0.00019770●●●●●●
20. 58840744 c.1024G>A p.V342I missense 0.00019738●●●●●●
21. 58834143 c.433G>A p.A145T missense 0.00018615●●●●●●
22. 58838040 c.674G>A p.R225Q missense 0.00014826●●●●●●
23. 58840688 c.968C>T p.T323M missense 0.00014119●●●●●●
24. 58834737 c.461C>A p.S154Y missense 0.00013179●●●●●●
25. 58834827 c.551C>T p.T184M missense 0.00012374●●●●●●
26. 58834027 c.317C>T p.A106V missense 0.00012186●●●●●●
27. 58834122 c.412C>T p.R138C missense 0.00011826●●●●●●
28. 58855862 c.1328C>T p.P443L missense 0.00011558●●●●●●
29. 58855730 c.1196C>T p.T399M missense 0.00011533●●●●●●
30. 58830649 c.206C>T p.P69L missense 0.00011531●●●●●●
31. 58838039 c.673C>T p.R225W missense 0.00010707●●●●●●
32. 58855865 c.1331G>A p.R444H missense 0.00009913●●●●●●
33. 58830639 c.196A>G p.I66V missense 0.00009884●●●●●●
34. 58855765 c.1231G>C p.G411R missense 0.00009884●●●●●●
35. 58840706 c.986G>A p.R329H missense 0.00009832●●●●●●
36. 58834155 c.445C>T p.R149W missense 0.00009388●●●●●●
37. 58834168 c.456+2T>C essential splice site 0.00008967●●●●●●
38. 58834114 c.404G>A p.R135H missense 0.00008116●●●●●●
39. 58834171 c.456+5C>T splice site 0.00008010●●●●●●
40. 58855928 c.1388+6T>C splice site 0.00007816●●●●●●
41. 58840600 c.880G>A p.G294S missense 0.00007478●●●●●●
42. 58855864 c.1330C>T p.R444C missense 0.00007432●●●●●●
43. 58834820 c.544G>A p.G182S missense 0.00007422●●●●●●
44. 58837936 c.575-5A>G splice site 0.00007421●●●●●●
45. 58830518 c.89-14A>G splice site 0.00007415●●●●●●
46. 58830608 c.165T>G p.F55L missense 0.00007413●●●●●●
47. 58724298 c.67C>T p.L23F missense 0.00007413●●●●●●
48. 58834808 c.532G>A p.G178S missense 0.00006594●●●●●●
49. 58724236 c.5A>T p.D2V missense 0.00006590●●●●●●
50. 58840649 c.929A>G p.Q310R missense 0.00006341●●●●●●
51. 58840718 c.998G>A p.R333Q missense 0.00006065●●●●●●
52. 58838105 c.739G>A p.G247R missense 0.00005766●●●●●●
53. 58724237 c.6C>A p.D2E missense 0.00005766●●●●●●
54. 58840678 c.958C>G p.R320G missense 0.00005594●●●●●●
55. 58834156 c.446G>A p.R149Q missense 0.00005330●●●●●●
56. 58840702 c.982G>A p.V328I missense 0.00005243●●●●●●
57. 58834007 c.297G>A p.W99X nonsense 0.00005239●●●●●●
58. 58840739 c.1019T>A p.F340Y missense 0.00005135●●●●●●
59. 58855879 c.1345G>A p.V449I missense 0.00004974●●●●●●
60. 58830609 c.166G>A p.G56R missense 0.00004942●●●●●●
61. 58830534 c.91C>A p.P31T missense 0.00004942●●●●●●
62. 58830716 c.273G>A p.S91S splice site 0.00004942●●●●●●
63. 58834144 c.434C>T p.A145V missense 0.00004935●●●●●●
64. 58840679 c.959G>T p.R320L missense 0.00004498●●●●●●
65. 58840705 c.985C>T p.R329C missense 0.00004191●●●●●●
66. 58840597 c.877G>A p.A293T missense 0.00004149●●●●●●
67. 58840562 c.842G>A p.R281Q missense 0.00004145●●●●●●
68. 58724324 c.88+5G>C splice site 0.00004119●●●●●●
69. 58838060 c.694G>C p.V232L missense 0.00004118●●●●●●
70. 58853178 c.1167T>C p.T389T splice site 0.00004118●●●●●●
71. 58838081 c.715G>A p.G239R missense 0.00004118●●●●●●
72. 58837984 c.618C>A p.S206R missense 0.00004118●●●●●●
73. 58838048 c.682A>G p.M228V missense 0.00004118●●●●●●
74. 58861012 c.1486C>T p.R496X nonsense 0.00003750●●●●●●
75. 58834120 c.410C>A p.T137N missense 0.00003623●●●●●●
76. 58834026 c.316G>A p.A106T missense 0.00003482●●●●●●
77. 58860978 c.1452C>G p.F484L missense 0.00003472●●●●●●
78. 58840582 c.862G>A p.D288N missense 0.00003312●●●●●●
79. 58834793 c.517G>A p.V173M missense 0.00003296●●●●●●
80. 58834749 c.473C>G p.S158C missense 0.00003295●●●●●●
81. 58838106 c.740G>A p.G247E missense 0.00003295●●●●●●
82. 58830620 c.177T>A p.N59K missense 0.00003295●●●●●●
83. 58834752 c.476G>A p.R159Q missense 0.00003295●●●●●●
84. 58861024 c.1498T>C p.Ter500ArgextTer10 nonsense 0.00002995●●●●●●
85. 58840657 c.937T>C p.C313R missense 0.00002846●●●●●●
86. 58834131 c.421G>A p.G141S missense 0.00002798●●●●●●
87. 58840699 c.979C>T p.H327Y missense 0.00002586●●●●●●
88. 58855898 c.1364T>C p.V455A missense 0.00002540●●●●●●
89. 58834854 c.574+4A>G splice site 0.00002480●●●●●●
90. 58855704 c.1170G>A p.L390L splice site 0.00002474●●●●●●
91. 58834821 c.545G>C p.G182A missense 0.00002474●●●●●●
92. 58853089 c.1078T>G p.F360V missense 0.00002474●●●●●●
93. 58838160 c.794A>G p.Q265R missense 0.00002474●●●●●●
94. 58838018 c.652G>C p.D218H missense 0.00002471●●●●●●
95. 58834773 c.497G>C p.G166A missense 0.00002471●●●●●●
96. 58853140 c.1129C>T p.L377F missense 0.00002471●●●●●●
97. 58838085 c.719A>C p.H240P missense 0.00002471●●●●●●
98. 58853113 c.1102A>G p.I368V missense 0.00002471●●●●●●
99. 58855756 c.1222G>A p.V408M missense 0.00002471●●●●●●
100. 58855745 c.1211T>C p.I404T missense 0.00002471●●●●●●
101. 58837980 c.614C>T p.P205L missense 0.00002471●●●●●●
102. 58834172 c.456+6G>A splice site 0.00002298●●●●●●
103. 58840678 c.958C>T p.R320C missense 0.00002238●●●●●●
104. 58840669 c.949A>G p.K317E missense 0.00002034●●●●●●
105. 58834126 c.416T>C p.L139P missense 0.00001833●●●●●●
106. 58840744 c.1024G>C p.V342L missense 0.00001794●●●●●●
107. 58834110 c.400G>A p.V134I missense 0.00001789●●●●●●
108. 58840742 c.1022T>C p.L341P missense 0.00001759●●●●●●
109. 58860953 c.1427T>C p.L476P missense 0.00001723●●●●●●
110. 58860971 c.1445A>T p.K482I missense 0.00001723●●●●●●
111. 58860955 c.1429C>T p.R477C missense 0.00001722●●●●●●
112. 58840736 c.1016T>C p.L339P missense 0.00001674●●●●●●
113. 58840735 c.1015C>T p.L339F missense 0.00001669●●●●●●
114. 58855696 c.1170-8T>C splice site 0.00001652●●●●●●
115. 58834844 c.568A>G p.I190V missense 0.00001652●●●●●●
116. 58834836 c.560T>C p.I187T missense 0.00001651●●●●●●
117. 58855853 c.1319G>A p.S440N missense 0.00001650●●●●●●
118. 58838165 c.799G>A p.G267S missense 0.00001650●●●●●●
119. 58838163 c.797A>G p.H266R missense 0.00001650●●●●●●
120. 58853091 c.1080C>G p.F360L missense 0.00001649●●●●●●
121. 58855829 c.1295C>T p.T432M missense 0.00001648●●●●●●
122. 58855717 c.1183G>A p.A395T missense 0.00001648●●●●●●
123. 58853173 c.1162A>G p.I388V missense 0.00001647●●●●●●
124. 58830713 c.270G>C p.W90C missense 0.00001647●●●●●●
125. 58837977 c.611C>T p.A204V missense 0.00001647●●●●●●
126. 58834731 c.457-2A>G essential splice site 0.00001647●●●●●●
127. 58838109 c.743G>T p.G248V missense 0.00001647●●●●●●
128. 58830669 c.226G>T p.G76C missense 0.00001647●●●●●●
129. 58834751 c.475C>T p.R159X nonsense 0.00001647●●●●●●
130. 58830636 c.193C>T p.R65X nonsense 0.00001647●●●●●●
131. 58837988 c.622C>T p.R208C missense 0.00001647●●●●●●
132. 58855775 c.1241T>C p.I414T missense 0.00001647●●●●●●
133. 58853168 c.1157T>C p.I386T missense 0.00001647●●●●●●
134. 58838078 c.712A>G p.I238V missense 0.00001647●●●●●●
135. 58830645 c.202C>T p.H68Y missense 0.00001647●●●●●●
136. 58853159 c.1148T>C p.M383T missense 0.00001647●●●●●●
137. 58838115 c.749T>G p.F250C missense 0.00001647●●●●●●
138. 58830669 c.226G>A p.G76S missense 0.00001647●●●●●●
139. 58830708 c.265G>A p.G89R missense 0.00001647●●●●●●
140. 58855753 c.1219G>A p.D407N missense 0.00001647●●●●●●
141. 58853160 c.1149G>A p.M383I missense 0.00001647●●●●●●
142. 58830655 c.212C>T p.T71M missense 0.00001647●●●●●●
143. 58837986 c.620A>G p.N207S missense 0.00001647●●●●●●
144. 58834770 c.494T>C p.I165T missense 0.00001647●●●●●●
145. 58840715 c.995C>T p.P332L missense 0.00001475●●●●●●
146. 58840715 c.995C>A p.P332Q missense 0.00001475●●●●●●
147. 58834156 c.446G>T p.R149L missense 0.00001066●●●●●●
148. 58855929 c.1388+7G>A splice site 0.00000984●●●●●●
149. 58860908 c.1389-7T>C splice site 0.00000951●●●●●●
150. 58840658 c.938G>T p.C313F missense 0.00000950●●●●●●
151. 58860909 c.1389-6A>G splice site 0.00000948●●●●●●
152. 58834132 c.422G>A p.G141D missense 0.00000937●●●●●●
153. 58834131 c.421G>C p.G141R missense 0.00000933●●●●●●
154. 58840652 c.932G>T p.G311V missense 0.00000921●●●●●●
155. 58833982 c.274-2A>G essential splice site 0.00000915●●●●●●
156. 58861004 c.1478C>T p.T493I missense 0.00000914●●●●●●
157. 58834123 c.413G>A p.R138H missense 0.00000912●●●●●●
158. 58840648 c.928C>A p.Q310K missense 0.00000902●●●●●●
159. 58833990 c.280G>A p.G94S missense 0.00000900●●●●●●
160. 58861000 c.1474delA p.Thr493HisfsTer10 frameshift 0.00000898●●●●●●
161. 58834107 c.397G>A p.A133T missense 0.00000892●●●●●●
162. 58855913 c.1379C>A p.T460N missense 0.00000888●●●●●●
163. 58833993 c.283G>T p.V95L missense 0.00000885●●●●●●
164. 58840642 c.922T>C p.F308L missense 0.00000882●●●●●●
165. 58834044 c.334G>T p.A112S missense 0.00000881●●●●●●
166. 58834095 c.385C>T p.H129Y missense 0.00000877●●●●●●
167. 58834092 c.382G>A p.D128N missense 0.00000874●●●●●●
168. 58834005 c.295_296insTC p.Trp99PhefsTer10 frameshift 0.00000873●●●●●●
169. 58834087 c.377C>G p.A126G missense 0.00000872●●●●●●
170. 58834024 c.314C>T p.A105V missense 0.00000871●●●●●●
171. 58834018 c.308T>C p.M103T missense 0.00000871●●●●●●
172. 58834023 c.313G>A p.A105T missense 0.00000871●●●●●●
173. 58860940 c.1414G>A p.D472N missense 0.00000870●●●●●●
174. 58834083 c.373C>G p.L125V missense 0.00000869●●●●●●
175. 58860978 c.1452C>A p.F484L missense 0.00000868●●●●●●
176. 58834076 c.366G>C p.W122C missense 0.00000867●●●●●●
177. 58860944 c.1418A>T p.D473V missense 0.00000867●●●●●●
178. 58834045 c.335C>T p.A112V missense 0.00000865●●●●●●
179. 58840635 c.915G>C p.M305I missense 0.00000864●●●●●●
180. 58840634 c.914T>G p.M305R missense 0.00000861●●●●●●
181. 58855895 c.1361G>T p.R454I missense 0.00000841●●●●●●
182. 58840619 c.899A>G p.Y300C missense 0.00000841●●●●●●
183. 58840618 c.898T>C p.Y300H missense 0.00000841●●●●●●
184. 58840614 c.894G>A p.M298I missense 0.00000837●●●●●●
185. 58855889 c.1355C>T p.T452M missense 0.00000835●●●●●●
186. 58840610 c.890G>A p.S297N missense 0.00000834●●●●●●
187. 58840526 c.809-3C>T splice site 0.00000834●●●●●●
188. 58840524 c.809-5T>G splice site 0.00000834●●●●●●
189. 58840530 c.810C>T splice site 0.00000833●●●●●●
190. 58840541 c.821C>T p.T274I missense 0.00000832●●●●●●
191. 58840604 c.884C>T p.T295M missense 0.00000832●●●●●●
192. 58855874 c.1340G>T p.G447V missense 0.00000828●●●●●●
193. 58840567 c.847G>C p.V283L missense 0.00000828●●●●●●
194. 58855871 c.1337C>T p.S446L missense 0.00000827●●●●●●
195. 58855867 c.1333C>T p.H445Y missense 0.00000826●●●●●●
196. 58838172 c.806A>G p.N269S missense 0.00000826●●●●●●
197. 58855861 c.1327C>T p.P443S missense 0.00000826●●●●●●
198. 58853081 c.1070A>C p.K357T missense 0.00000825●●●●●●
199. 58838165 c.799G>T p.G267C missense 0.00000825●●●●●●
200. 58855849 c.1315T>A p.W439R missense 0.00000825●●●●●●
201. 58838161 c.795_799delGCACG p.His266LeufsTer37 frameshift 0.00000825●●●●●●
202. 58838157 c.791C>T p.A264V missense 0.00000825●●●●●●
203. 58834821 c.545G>A p.G182D missense 0.00000825●●●●●●
204. 58834830 c.554A>G p.H185R missense 0.00000825●●●●●●
205. 58855702 c.1170-2A>G essential splice site 0.00000825●●●●●●
206. 58837936 c.575-5_575-4insT splice site 0.00000825●●●●●●
207. 58838168 c.802T>C p.F268L missense 0.00000825●●●●●●
208. 58855718 c.1184C>T p.A395V missense 0.00000824●●●●●●
209. 58838142 c.776T>C p.L259P missense 0.00000824●●●●●●
210. 58830670 c.227G>C p.G76A missense 0.00000824●●●●●●
211. 58853131 c.1120A>G p.M374V missense 0.00000824●●●●●●
212. 58830630 c.187C>T p.Q63X nonsense 0.00000824●●●●●●
213. 58838045 c.679C>T p.H227Y missense 0.00000824●●●●●●
214. 58830619 c.176A>G p.N59S missense 0.00000824●●●●●●
215. 58837953 c.587C>T p.A196V missense 0.00000824●●●●●●
216. 58834817 c.541A>G p.I181V missense 0.00000824●●●●●●
217. 58724278 c.47T>C p.I16T missense 0.00000824●●●●●●
218. 58830586 c.143T>G p.M48R missense 0.00000824●●●●●●
219. 58724244 c.13_14insCCCT p.Cys7ProfsTer35 frameshift 0.00000824●●●●●●
220. 58837958 c.592C>A p.P198T missense 0.00000824●●●●●●
221. 58855786 c.1252T>C p.F418L missense 0.00000824●●●●●●
222. 58853166 c.1155A>T p.K385N missense 0.00000824●●●●●●
223. 58838084 c.718C>T p.H240Y missense 0.00000824●●●●●●
224. 58830655 c.212C>A p.T71K missense 0.00000824●●●●●●
225. 58855708 c.1174A>C p.K392Q missense 0.00000824●●●●●●
226. 58853098 c.1087C>A p.Q363K missense 0.00000824●●●●●●
227. 58838003 c.637G>T p.D213Y missense 0.00000824●●●●●●
228. 58830574 c.131C>T p.T44M missense 0.00000824●●●●●●
229. 58834772 c.496G>A p.G166R missense 0.00000824●●●●●●
230. 58838121 c.755C>G p.P252R missense 0.00000824●●●●●●
231. 58830702 c.259A>G p.I87V missense 0.00000824●●●●●●
232. 58855768 c.1234G>C p.E412Q missense 0.00000824●●●●●●
233. 58830715 c.272C>T p.S91L missense 0.00000824●●●●●●
234. 58855760 c.1226delA p.D409Vfs*5 frameshift 0.00000824●●●●●●
235. 58724323 c.88+4A>G splice site 0.00000824●●●●●●
236. 58853135 c.1124C>T p.S375L missense 0.00000824●●●●●●
237. 58838075 c.709C>T p.P237S missense 0.00000824●●●●●●
238. 58830637 c.194G>A p.R65Q missense 0.00000824●●●●●●
239. 58724286 c.55C>A p.Q19K missense 0.00000824●●●●●●
240. 58830606 c.163_164delTT p.Phe55TrpfsTer146 frameshift 0.00000824●●●●●●
241. 58855738 c.1204T>C p.F402L missense 0.00000824●●●●●●
242. 58855808 c.1274T>G p.V425G missense 0.00000824●●●●●●
243. 58855710 c.1176A>C p.K392N missense 0.00000824●●●●●●
244. 58838007 c.641C>T p.A214V missense 0.00000824●●●●●●
245. 58830585 c.142A>G p.M48V missense 0.00000824●●●●●●
246. 58724248 c.17T>C p.L6P missense 0.00000824●●●●●●
247. 58834784 c.508G>T p.G170C missense 0.00000824●●●●●●
248. 58830526 c.89-6T>C splice site 0.00000824●●●●●●
249. 58853143 c.1132G>A p.G378R missense 0.00000824●●●●●●
250. 58830623 c.180G>T p.Q60H missense 0.00000824●●●●●●
251. 58830538 c.95T>G p.F32C missense 0.00000824●●●●●●
252. 58724302 c.71G>A p.G24E missense 0.00000824●●●●●●
253. 58837953 c.587_588insG p.Pro198ThrfsTer4 frameshift 0.00000824●●●●●●
254. 58855765 c.1231G>A p.G411S missense 0.00000824●●●●●●
255. 58855817 c.1283A>C p.N428T missense 0.00000824●●●●●●
256. 58830709 c.266G>A p.G89E missense 0.00000824●●●●●●
257. 58838097 c.731A>G p.Y244C missense 0.00000824●●●●●●
258. 58830616 c.173C>A p.T58N missense 0.00000824●●●●●●
259. 58853126 c.1115T>G p.F372C missense 0.00000824●●●●●●
260. 58838060 c.694G>A p.V232M missense 0.00000824●●●●●●
261. 58724293 c.62G>C p.S21T missense 0.00000824●●●●●●
262. 58724239 c.8_9insA p.Ser4LysfsTer37 frameshift 0.00000824●●●●●●
263. 58724245 c.14C>G p.P5R missense 0.00000824●●●●●●
264. 58855778 c.1244T>C p.M415T missense 0.00000824●●●●●●
265. 58853177 c.1166C>A p.T389N missense 0.00000824●●●●●●
266. 58838079 c.713T>C p.I238T missense 0.00000824●●●●●●
267. 58853183 c.1169+3G>C splice site 0.00000824●●●●●●
268. 58838122 c.756delT p.Gly253AlafsTer5 frameshift 0.00000824●●●●●●
269. 58830553 c.110A>G p.Q37R missense 0.00000824●●●●●●
270. 58724309 c.78C>G p.S26R missense 0.00000824●●●●●●
271. 58724235 c.4G>T p.D2Y 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.