LIPI missense variants in ExAC

LIPI gene summary
LIPI variants in

The table below lists the LIPI missense 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. 15516976 c.1326A>T p.R442S missense 1.00000000●●●●●●
2. 15481365 c.1395C>A p.D465E missense 0.50091480●●●●●●
3. 15516948 c.1354G>A p.E452K missense 0.31933291●●●●●●
4. 15524921 c.1154G>A p.G385E missense 0.07109359●●●●●●
5. 15537589 c.919T>C p.C307R missense 0.00631468●●●●●●
6. 15561623 c.227G>A p.C76Y missense 0.00491844●●●●●●
7. 15561435 c.415A>G p.T139A missense 0.00399354●●●●●●
8. 15579196 c.49C>G p.H17D missense 0.00251135●●●●●●
9. 15558363 c.523C>G p.H175D missense 0.00105873●●●●●●
10. 15558302 c.584G>A p.G195D missense 0.00042605●●●●●●
11. 15537618 c.890G>A p.R297H missense 0.00038837●●●●●●
12. 15554120 c.665C>T p.T222M missense 0.00027401●●●●●●
13. 15537619 c.889C>T p.R297C missense 0.00020658●●●●●●
14. 15561498 c.352G>A p.V118I missense 0.00014007●●●●●●
15. 15537549 c.959G>A p.R320Q missense 0.00013308●●●●●●
16. 15524982 c.1093A>C p.I365L missense 0.00012185●●●●●●
17. 15554121 c.664A>G p.T222A missense 0.00011135●●●●●●
18. 15535800 c.1009G>A p.E337K missense 0.00010740●●●●●●
19. 15538701 c.778C>G p.P260A missense 0.00009079●●●●●●
20. 15524978 c.1097T>G p.V366G missense 0.00008366●●●●●●
21. 15561525 c.325T>C p.S109P missense 0.00008238●●●●●●
22. 15554163 c.622C>A p.P208T missense 0.00008118●●●●●●
23. 15481358 c.1402G>A p.E468K missense 0.00007417●●●●●●
24. 15537685 c.823C>A p.Q275K missense 0.00006623●●●●●●
25. 15561569 c.281A>G p.Q94R missense 0.00006590●●●●●●
26. 15517040 c.1262T>C p.I421T missense 0.00005798●●●●●●
27. 15558368 c.518A>G p.N173S missense 0.00005790●●●●●●
28. 15554081 c.704A>G p.N235S missense 0.00005386●●●●●●
29. 15537618 c.890G>T p.R297L missense 0.00004958●●●●●●
30. 15561558 c.292G>T p.V98F missense 0.00004943●●●●●●
31. 15561384 c.466A>G p.S156G missense 0.00004250●●●●●●
32. 15561393 c.457G>A p.V153I missense 0.00004236●●●●●●
33. 15561443 c.407G>A p.R136Q missense 0.00004140●●●●●●
34. 15558357 c.529A>G p.I177V missense 0.00004135●●●●●●
35. 15535778 c.1031C>T p.T344I missense 0.00004131●●●●●●
36. 15524960 c.1115T>C p.M372T missense 0.00003636●●●●●●
37. 15554157 c.628T>A p.F210I missense 0.00003555●●●●●●
38. 15538722 c.757G>A p.G253R missense 0.00003303●●●●●●
39. 15538713 c.766C>A p.Q256K missense 0.00003302●●●●●●
40. 15561644 c.206A>G p.Y69C missense 0.00003296●●●●●●
41. 15561383 c.467G>T p.S156I missense 0.00002551●●●●●●
42. 15561440 c.410G>A p.G137D missense 0.00002493●●●●●●
43. 15537550 c.958C>T p.R320W missense 0.00002493●●●●●●
44. 15517058 c.1244T>G p.F415C missense 0.00002491●●●●●●
45. 15517042 c.1260C>A p.S420R missense 0.00002485●●●●●●
46. 15579225 c.20A>G p.H7R missense 0.00002481●●●●●●
47. 15537648 c.860C>T p.T287I missense 0.00002479●●●●●●
48. 15537658 c.850T>C p.S284P missense 0.00002479●●●●●●
49. 15561470 c.380T>C p.M127T missense 0.00002473●●●●●●
50. 15524925 c.1150C>T p.L384F missense 0.00001873●●●●●●
51. 15554165 c.620G>T p.G207V missense 0.00001815●●●●●●
52. 15554163 c.622C>G p.P208A missense 0.00001804●●●●●●
53. 15554080 c.705T>A p.N235K missense 0.00001800●●●●●●
54. 15554157 c.628T>G p.F210V missense 0.00001778●●●●●●
55. 15554135 c.650G>T p.S217I missense 0.00001723●●●●●●
56. 15517098 c.1204C>T p.L402F missense 0.00001689●●●●●●
57. 15516944 c.1358G>C p.R453T missense 0.00001689●●●●●●
58. 15537689 c.819C>A p.N273K missense 0.00001657●●●●●●
59. 15535836 c.973G>A p.A325T missense 0.00001656●●●●●●
60. 15558370 c.516C>G p.D172E missense 0.00001655●●●●●●
61. 15537567 c.941A>C p.K314T missense 0.00001655●●●●●●
62. 15579229 c.16T>G p.L6V missense 0.00001654●●●●●●
63. 15516996 c.1306T>C p.C436R missense 0.00001653●●●●●●
64. 15537613 c.895T>C p.Y299H missense 0.00001653●●●●●●
65. 15537594 c.914G>A p.S305N missense 0.00001653●●●●●●
66. 15535790 c.1019C>T p.P340L missense 0.00001652●●●●●●
67. 15537633 c.875T>C p.I292T missense 0.00001652●●●●●●
68. 15535801 c.1008G>A p.M336I missense 0.00001652●●●●●●
69. 15561671 c.179C>T p.P60L missense 0.00001651●●●●●●
70. 15538703 c.776G>C p.C259S missense 0.00001651●●●●●●
71. 15481319 c.1441A>G p.T481A missense 0.00001649●●●●●●
72. 15481394 c.1366C>A p.L456I missense 0.00001649●●●●●●
73. 15561519 c.331C>T p.P111S missense 0.00001648●●●●●●
74. 15561543 c.307G>A p.G103R missense 0.00001648●●●●●●
75. 15561642 c.208A>G p.T70A missense 0.00001648●●●●●●
76. 15561634 c.216C>A p.N72K missense 0.00001648●●●●●●
77. 15561620 c.230C>T p.A77V missense 0.00001648●●●●●●
78. 15579136 c.109G>T p.D37Y missense 0.00001018●●●●●●
79. 15524916 c.1159A>G p.I387V missense 0.00000976●●●●●●
80. 15524988 c.1087A>G p.S363G missense 0.00000953●●●●●●
81. 15524987 c.1088G>A p.S363N missense 0.00000950●●●●●●
82. 15554169 c.616G>A p.A206T missense 0.00000917●●●●●●
83. 15524964 c.1111A>G p.M371V missense 0.00000913●●●●●●
84. 15524940 c.1135A>C p.K379Q missense 0.00000911●●●●●●
85. 15554162 c.623C>G p.P208R missense 0.00000901●●●●●●
86. 15554162 c.623C>T p.P208L missense 0.00000901●●●●●●
87. 15554159 c.626G>C p.R209T missense 0.00000893●●●●●●
88. 15579150 c.95T>A p.V32E missense 0.00000884●●●●●●
89. 15554154 c.631T>C p.S211P missense 0.00000882●●●●●●
90. 15517117 c.1185G>T p.K395N missense 0.00000879●●●●●●
91. 15554144 c.641C>T p.P214L missense 0.00000870●●●●●●
92. 15554099 c.686T>C p.V229A missense 0.00000868●●●●●●
93. 15517112 c.1190A>G p.K397R missense 0.00000868●●●●●●
94. 15554106 c.679G>A p.V227M missense 0.00000862●●●●●●
95. 15554132 c.653G>T p.R218I missense 0.00000859●●●●●●
96. 15554132 c.653G>C p.R218T missense 0.00000859●●●●●●
97. 15554126 c.659A>G p.D220G missense 0.00000857●●●●●●
98. 15561374 c.476T>C p.V159A missense 0.00000854●●●●●●
99. 15561378 c.472A>T p.S158C missense 0.00000852●●●●●●
100. 15517101 c.1201A>G p.K401E missense 0.00000848●●●●●●
101. 15561392 c.458T>A p.V153D missense 0.00000847●●●●●●
102. 15561411 c.439G>A p.V147I missense 0.00000841●●●●●●
103. 15561416 c.434G>C p.R145T missense 0.00000840●●●●●●
104. 15561419 c.431A>G p.N144S missense 0.00000839●●●●●●
105. 15561417 c.433A>G p.R145G missense 0.00000839●●●●●●
106. 15517085 c.1217A>G p.K406R missense 0.00000838●●●●●●
107. 15561423 c.427T>C p.Y143H missense 0.00000838●●●●●●
108. 15561427 c.423T>G p.F141L missense 0.00000837●●●●●●
109. 15517077 c.1225G>C p.A409P missense 0.00000833●●●●●●
110. 15558312 c.574A>T p.I192L missense 0.00000833●●●●●●
111. 15537704 c.804A>T p.Q268H missense 0.00000832●●●●●●
112. 15537703 c.805T>G p.F269V missense 0.00000831●●●●●●
113. 15558321 c.565G>C p.V189L missense 0.00000831●●●●●●
114. 15561437 c.413C>T p.A138V missense 0.00000831●●●●●●
115. 15537702 c.806T>C p.F269S missense 0.00000831●●●●●●
116. 15561440 c.410G>T p.G137V missense 0.00000831●●●●●●
117. 15535742 c.1067G>A p.C356Y missense 0.00000830●●●●●●
118. 15558323 c.563T>G p.F188C missense 0.00000830●●●●●●
119. 15537700 c.808A>G p.I270V missense 0.00000830●●●●●●
120. 15537553 c.955C>G p.P319A missense 0.00000830●●●●●●
121. 15537555 c.953G>A p.C318Y missense 0.00000829●●●●●●
122. 15579198 c.47C>T p.A16V missense 0.00000829●●●●●●
123. 15561711 c.139C>A p.Q47K missense 0.00000829●●●●●●
124. 15561713 c.137C>G p.S46C missense 0.00000829●●●●●●
125. 15535835 c.974C>A p.A325D missense 0.00000828●●●●●●
126. 15561708 c.142C>G p.L48V missense 0.00000828●●●●●●
127. 15535751 c.1058A>G p.Y353C missense 0.00000828●●●●●●
128. 15535836 c.973G>T p.A325S missense 0.00000828●●●●●●
129. 15535757 c.1052G>T p.G351V missense 0.00000828●●●●●●
130. 15538764 c.715A>G p.I239V missense 0.00000828●●●●●●
131. 15561705 c.145A>T p.S49C missense 0.00000828●●●●●●
132. 15517014 c.1288A>G p.N430D missense 0.00000827●●●●●●
133. 15537579 c.929G>A p.C310Y missense 0.00000827●●●●●●
134. 15538742 c.737T>C p.I246T missense 0.00000827●●●●●●
135. 15561444 c.406C>T p.R136W missense 0.00000827●●●●●●
136. 15537580 c.928T>A p.C310S missense 0.00000827●●●●●●
137. 15579214 c.31T>A p.C11S missense 0.00000827●●●●●●
138. 15558377 c.509C>T p.S170F missense 0.00000827●●●●●●
139. 15558353 c.533G>T p.G178V missense 0.00000827●●●●●●
140. 15537575 c.933C>A p.D311E missense 0.00000827●●●●●●
141. 15516995 c.1307G>T p.C436F missense 0.00000827●●●●●●
142. 15558356 c.530T>C p.I177T missense 0.00000827●●●●●●
143. 15535769 c.1040T>C p.L347S missense 0.00000827●●●●●●
144. 15537606 c.902A>T p.D301V missense 0.00000826●●●●●●
145. 15535804 c.1005G>T p.R335S missense 0.00000826●●●●●●
146. 15535799 c.1010A>G p.E337G missense 0.00000826●●●●●●
147. 15537601 c.907A>C p.K303Q missense 0.00000826●●●●●●
148. 15561675 c.175A>T p.I59F missense 0.00000826●●●●●●
149. 15538721 c.758G>A p.G253E missense 0.00000826●●●●●●
150. 15537612 c.896A>G p.Y299C missense 0.00000826●●●●●●
151. 15535808 c.1001A>G p.E334G missense 0.00000826●●●●●●
152. 15561676 c.174T>A p.F58L missense 0.00000826●●●●●●
153. 15535791 c.1018C>T p.P340S missense 0.00000826●●●●●●
154. 15561684 c.166G>A p.D56N missense 0.00000826●●●●●●
155. 15561452 c.398A>G p.D133G missense 0.00000826●●●●●●
156. 15535792 c.1017A>T p.R339S missense 0.00000826●●●●●●
157. 15561674 c.176T>G p.I59S missense 0.00000826●●●●●●
158. 15537660 c.848C>T p.A283V missense 0.00000826●●●●●●
159. 15561466 c.384T>A p.N128K missense 0.00000825●●●●●●
160. 15538700 c.779C>T p.P260L missense 0.00000825●●●●●●
161. 15561668 c.182G>A p.R61K missense 0.00000825●●●●●●
162. 15538692 c.787A>G p.I263V missense 0.00000825●●●●●●
163. 15481390 c.1370G>A p.C457Y missense 0.00000825●●●●●●
164. 15538697 c.782A>T p.K261I missense 0.00000825●●●●●●
165. 15561657 c.193A>G p.I65V missense 0.00000825●●●●●●
166. 15561510 c.340C>T p.L114F missense 0.00000824●●●●●●
167. 15481355 c.1405G>A p.V469M missense 0.00000824●●●●●●
168. 15561634 c.216C>G p.N72K missense 0.00000824●●●●●●
169. 15561544 c.306C>G p.H102Q missense 0.00000824●●●●●●
170. 15561585 c.265G>A p.V89I missense 0.00000824●●●●●●
171. 15481334 c.1426T>C p.C476R missense 0.00000824●●●●●●
172. 15561478 c.372A>C p.E124D missense 0.00000824●●●●●●
173. 15481375 c.1385T>C p.V462A missense 0.00000824●●●●●●
174. 15481323 c.1437G>T p.K479N missense 0.00000824●●●●●●
175. 15561594 c.256T>C p.S86P missense 0.00000824●●●●●●
176. 15481346 c.1414A>G p.N472D missense 0.00000824●●●●●●
177. 15561570 c.280C>A p.Q94K missense 0.00000824●●●●●●
178. 15561491 c.359T>G p.I120S 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.