CACNB2 variants in ExAC

CACNB2 gene summary
CACNB2 variants in

The table below lists the CACNB2 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. 18816633 c.892+7C>T splice site 0.21502109●●●●●●
2. 18828635 c.1803T>G p.D601E missense 0.13816761●●●●●●
3. 18828486 c.1654C>G p.R552G missense 0.00918702●●●●●●
4. 18823162 c.1044+6T>C splice site 0.00185693●●●●●●
5. 18828181 c.1349C>T p.T450I missense 0.00157599●●●●●●
6. 18828340 c.1508C>T p.S503L missense 0.00116204●●●●●●
7. 18795447 c.479G>C p.S160T missense 0.00100682●●●●●●
8. 18828366 c.1534G>A p.A512T missense 0.00081592●●●●●●
9. 18828446 c.1614C>A p.D538E missense 0.00064287●●●●●●
10. 18789874 c.428C>T p.S143F missense 0.00050883●●●●●●
11. 18828358 c.1526G>A p.R509Q missense 0.00043682●●●●●●
12. 18828645 c.1813C>T p.R605C missense 0.00032916●●●●●●
13. 18828261 c.1429C>T p.R477C missense 0.00024717●●●●●●
14. 18828223 c.1391A>C p.E464A missense 0.00023074●●●●●●
15. 18828486 c.1654C>T p.R552W missense 0.00022267●●●●●●
16. 18828372 c.1540G>A p.V514I missense 0.00021428●●●●●●
17. 18827163 c.1195C>T p.L399F missense 0.00018944●●●●●●
18. 18828487 c.1655G>C p.R552P missense 0.00016493●●●●●●
19. 18825121 c.1136C>G p.P379R missense 0.00014926●●●●●●
20. 18828192 c.1360G>A p.A454T missense 0.00014023●●●●●●
21. 18823156 c.1044_1044+1insGTAA p.Leu350SerfsTer15 frameshift 0.00012376●●●●●●
22. 18823159 c.1044+3A>T splice site 0.00010728●●●●●●
23. 18795440 c.472G>C p.V158L missense 0.00010154●●●●●●
24. 18828606 c.1774C>T p.R592W missense 0.00010016●●●●●●
25. 18827303 c.1326+9A>G splice site 0.00009928●●●●●●
26. 18787330 c.218C>T p.A73V missense 0.00009892●●●●●●
27. 18828340 c.1508C>G p.S503W missense 0.00009890●●●●●●
28. 18827302 c.1326+8G>A splice site 0.00009099●●●●●●
29. 18828282 c.1450C>G p.H484D missense 0.00009063●●●●●●
30. 18828351 c.1519G>A p.E507K missense 0.00008242●●●●●●
31. 18828310 c.1478G>A p.R493H missense 0.00008240●●●●●●
32. 18828605 c.1773A>C p.K591N missense 0.00007508●●●●●●
33. 18828262 c.1430G>A p.R477H missense 0.00007416●●●●●●
34. 18787293 c.181G>A p.V61I missense 0.00006603●●●●●●
35. 18803167 c.511A>G p.I171V missense 0.00006592●●●●●●
36. 18828627 c.1795A>C p.N599H missense 0.00005861●●●●●●
37. 18816597 c.863T>C p.I288T missense 0.00005778●●●●●●
38. 18823005 c.893C>T p.A298V missense 0.00005772●●●●●●
39. 18803212 c.556C>G p.P186A missense 0.00005768●●●●●●
40. 18828229 c.1397C>T p.P466L missense 0.00005768●●●●●●
41. 18803224 c.568C>T p.R190C missense 0.00005768●●●●●●
42. 18787276 c.172-8C>T splice site 0.00004967●●●●●●
43. 18787303 c.191C>T p.A64V missense 0.00004949●●●●●●
44. 18828372 c.1540G>C p.V514L missense 0.00004945●●●●●●
45. 18828312 c.1480G>A p.G494S missense 0.00004944●●●●●●
46. 18827105 c.1141-4G>A splice site 0.00004942●●●●●●
47. 18828646 c.1814G>A p.R605H missense 0.00004228●●●●●●
48. 18828576 c.1744_1745insA p.Asp584GlyfsTer11 frameshift 0.00004150●●●●●●
49. 18828550 c.1718G>A p.R573H missense 0.00004135●●●●●●
50. 18789787 c.341G>A p.C114Y missense 0.00004132●●●●●●
51. 18807341 c.719A>G p.Y240C missense 0.00004123●●●●●●
52. 18807887 c.772T>C p.F258L missense 0.00004121●●●●●●
53. 18828378 c.1546C>G p.P516A missense 0.00004121●●●●●●
54. 18828427 c.1595G>A p.R532H missense 0.00004121●●●●●●
55. 18787377 c.265G>A p.E89K missense 0.00004120●●●●●●
56. 18828309 c.1477C>T p.R493C missense 0.00004120●●●●●●
57. 18828291 c.1459C>A p.H487N missense 0.00004120●●●●●●
58. 18803294 c.638A>G p.K213R missense 0.00004119●●●●●●
59. 18828567 c.1735C>T p.R579C missense 0.00003315●●●●●●
60. 18828568 c.1736G>A p.R579H missense 0.00003315●●●●●●
61. 18787277 c.172-7A>T splice site 0.00003310●●●●●●
62. 18789769 c.323G>A p.R108Q missense 0.00003309●●●●●●
63. 18816539 c.805G>A p.A269T missense 0.00003302●●●●●●
64. 18828511 c.1679G>A p.R560Q missense 0.00003300●●●●●●
65. 18828186 c.1354C>T p.R452C missense 0.00003300●●●●●●
66. 18828499 c.1667G>A p.R556Q missense 0.00003299●●●●●●
67. 18787308 c.196C>T p.R66W missense 0.00003299●●●●●●
68. 18828202 c.1370G>A p.R457H missense 0.00003298●●●●●●
69. 18828418 c.1586C>T p.A529V missense 0.00003297●●●●●●
70. 18807896 c.781C>T p.R261W missense 0.00003297●●●●●●
71. 18823026 c.914A>G p.E305G missense 0.00003297●●●●●●
72. 18828446 c.1614C>G p.D538E missense 0.00003297●●●●●●
73. 18828283 c.1451A>G p.H484R missense 0.00003296●●●●●●
74. 18828243 c.1411G>A p.V471I missense 0.00003296●●●●●●
75. 18827239 c.1271G>A p.R424H missense 0.00003295●●●●●●
76. 18827238 c.1270C>T p.R424C missense 0.00003295●●●●●●
77. 18828567 c.1735C>A p.R579S missense 0.00002486●●●●●●
78. 18825116 c.1131G>C p.Q377H missense 0.00002485●●●●●●
79. 18690953 c.152C>G p.A51G missense 0.00002484●●●●●●
80. 18828549 c.1717C>T p.R573C missense 0.00002481●●●●●●
81. 18828544 c.1712G>A p.R571H missense 0.00002480●●●●●●
82. 18816590 c.856G>A p.A286T missense 0.00002476●●●●●●
83. 18816549 c.815C>T p.S272L missense 0.00002475●●●●●●
84. 18828487 c.1655G>A p.R552Q missense 0.00002474●●●●●●
85. 18807261 c.643-4G>A splice site 0.00002474●●●●●●
86. 18828406 c.1574T>G p.V525G missense 0.00002473●●●●●●
87. 18828327 c.1495G>C p.E499Q missense 0.00002472●●●●●●
88. 18828295 c.1463G>A p.R488H missense 0.00002472●●●●●●
89. 18803302 c.642+4A>C splice site 0.00002472●●●●●●
90. 18828282 c.1450_1452delCAC p.His484del inframe 0.00002472●●●●●●
91. 18827194 c.1226C>T p.A409V missense 0.00002471●●●●●●
92. 18825030 c.1045G>A p.V349I missense 0.00001714●●●●●●
93. 18795456 c.488A>G p.K163R missense 0.00001696●●●●●●
94. 18789884 c.431+7G>C splice site 0.00001676●●●●●●
95. 18828607 c.1775G>A p.R592Q missense 0.00001669●●●●●●
96. 18828597 c.1765T>C p.S589P missense 0.00001666●●●●●●
97. 18825084 c.1099G>A p.V367I missense 0.00001657●●●●●●
98. 18825090 c.1105A>T p.M369L missense 0.00001656●●●●●●
99. 18629889 c.34A>G p.K12E missense 0.00001656●●●●●●
100. 18816626 c.892G>C p.A298P missense 0.00001655●●●●●●
101. 18789784 c.338G>C p.G113A missense 0.00001653●●●●●●
102. 18789828 c.382A>G p.M128V missense 0.00001653●●●●●●
103. 18828151 c.1327-8G>C splice site 0.00001652●●●●●●
104. 18828532 c.1700G>A p.C567Y missense 0.00001652●●●●●●
105. 18828171 c.1339G>A p.D447N missense 0.00001651●●●●●●
106. 18828179 c.1347G>T p.R449S missense 0.00001650●●●●●●
107. 18690857 c.56C>T p.S19L missense 0.00001650●●●●●●
108. 18828187 c.1355G>A p.R452H missense 0.00001650●●●●●●
109. 18807316 c.694C>G p.L232V missense 0.00001649●●●●●●
110. 18807259 c.643-6C>T splice site 0.00001649●●●●●●
111. 18828456 c.1624G>A p.G542R missense 0.00001649●●●●●●
112. 18828484 c.1652C>T p.S551F missense 0.00001649●●●●●●
113. 18828493 c.1661G>A p.R554H missense 0.00001649●●●●●●
114. 18823130 c.1018G>A p.V340I missense 0.00001649●●●●●●
115. 18828357 c.1525C>G p.R509G missense 0.00001648●●●●●●
116. 18828329 c.1497G>C p.E499D missense 0.00001648●●●●●●
117. 18828304 c.1472C>T p.T491I missense 0.00001648●●●●●●
118. 18828358 c.1526G>C p.R509P missense 0.00001648●●●●●●
119. 18803183 c.527C>T p.T176I missense 0.00001648●●●●●●
120. 18823074 c.962C>T p.A321V missense 0.00001648●●●●●●
121. 18828405 c.1573G>A p.V525M missense 0.00001648●●●●●●
122. 18827121 c.1153G>A p.V385M missense 0.00001647●●●●●●
123. 18827238 c.1270C>G p.R424G missense 0.00001647●●●●●●
124. 18827275 c.1307C>A p.T436N missense 0.00001647●●●●●●
125. 18827169 c.1201G>A p.D401N missense 0.00001647●●●●●●
126. 18825027 c.1045-3C>T splice site 0.00000865●●●●●●
127. 18795400 c.432T>C p.S144S splice site 0.00000862●●●●●●
128. 18795471 c.503C>T p.S168L missense 0.00000854●●●●●●
129. 18795458 c.490T>A p.S164T missense 0.00000849●●●●●●
130. 18825035 c.1050A>C p.L350F missense 0.00000848●●●●●●
131. 18795448 c.480T>A p.S160R missense 0.00000846●●●●●●
132. 18795447 c.479G>A p.S160N missense 0.00000846●●●●●●
133. 18789881 c.431+4T>C splice site 0.00000837●●●●●●
134. 18828616 c.1784C>T p.A595V missense 0.00000836●●●●●●
135. 18828595 c.1763_1764insATCA p.Lys590IlefsTer6 frameshift 0.00000833●●●●●●
136. 18825055 c.1070G>A p.R357Q missense 0.00000832●●●●●●
137. 18828588 c.1756G>A p.E586K missense 0.00000832●●●●●●
138. 18825132 c.1140+7T>C splice site 0.00000831●●●●●●
139. 18828583 c.1751A>G p.D584G missense 0.00000831●●●●●●
140. 18825125 c.1140A>G splice site 0.00000830●●●●●●
141. 18690974 c.171+2_171+3insAA splice site 0.00000830●●●●●●
142. 18825124 c.1139C>A p.P380Q missense 0.00000830●●●●●●
143. 18825069 c.1084G>A p.A362T missense 0.00000829●●●●●●
144. 18690965 c.164A>G p.K55R missense 0.00000829●●●●●●
145. 18690967 c.166G>C p.A56P missense 0.00000829●●●●●●
146. 18825075 c.1090C>T p.H364Y missense 0.00000829●●●●●●
147. 18789756 c.310T>C p.W104R missense 0.00000828●●●●●●
148. 18629868 c.13C>G p.R5G missense 0.00000828●●●●●●
149. 18828563 c.1731G>C p.K577N missense 0.00000828●●●●●●
150. 18789850 c.404G>T p.R135I missense 0.00000828●●●●●●
151. 18629908 c.51+2T>G essential splice site 0.00000828●●●●●●
152. 18828565 c.1733A>C p.D578A missense 0.00000828●●●●●●
153. 18690952 c.151G>A p.A51T missense 0.00000828●●●●●●
154. 18629880 c.25C>G p.P9A missense 0.00000828●●●●●●
155. 18828561 c.1729A>G p.K577E missense 0.00000828●●●●●●
156. 18690935 c.134C>G p.A45G missense 0.00000827●●●●●●
157. 18827301 c.1326+7G>A splice site 0.00000827●●●●●●
158. 18825103 c.1118A>C p.D373A missense 0.00000827●●●●●●
159. 18828547 c.1715G>A p.S572N missense 0.00000827●●●●●●
160. 18690938 c.137A>T p.E46V missense 0.00000827●●●●●●
161. 18827301 c.1326+7G>C splice site 0.00000827●●●●●●
162. 18828544 c.1712G>C p.R571P missense 0.00000827●●●●●●
163. 18789829 c.383T>C p.M128T missense 0.00000826●●●●●●
164. 18789795 c.349G>A p.G117R missense 0.00000826●●●●●●
165. 18816517 c.783G>T splice site 0.00000826●●●●●●
166. 18828167 c.1335A>C p.Q445H missense 0.00000826●●●●●●
167. 18787290 c.178C>T p.P60S missense 0.00000826●●●●●●
168. 18789802 c.356T>C p.I119T missense 0.00000826●●●●●●
169. 18816527 c.793A>G p.T265A missense 0.00000826●●●●●●
170. 18816517 c.783G>C splice site 0.00000826●●●●●●
171. 18816518 c.784A>T p.I262L missense 0.00000826●●●●●●
172. 18816606 c.872C>T p.S291F missense 0.00000826●●●●●●
173. 18690926 c.125G>T p.R42L missense 0.00000826●●●●●●
174. 18807833 c.724-6T>C splice site 0.00000825●●●●●●
175. 18787293 c.181G>C p.V61L missense 0.00000825●●●●●●
176. 18828178 c.1346G>C p.R449T missense 0.00000825●●●●●●
177. 18828521 c.1689C>G p.D563E missense 0.00000825●●●●●●
178. 18828192 c.1360G>T p.A454S missense 0.00000825●●●●●●
179. 18807353 c.723+8G>A splice site 0.00000825●●●●●●
180. 18828371 c.1539C>A p.Y513X nonsense 0.00000825●●●●●●
181. 18823140 c.1028A>C p.K343T missense 0.00000825●●●●●●
182. 18816564 c.830C>T p.S277L missense 0.00000825●●●●●●
183. 18828484 c.1652C>G p.S551C missense 0.00000825●●●●●●
184. 18828171 c.1339G>T p.D447Y missense 0.00000825●●●●●●
185. 18807262 c.643-3C>T splice site 0.00000825●●●●●●
186. 18828528 c.1696G>A p.E566K missense 0.00000825●●●●●●
187. 18828198 c.1366A>G p.I456V missense 0.00000825●●●●●●
188. 18807274 c.652A>G p.T218A missense 0.00000825●●●●●●
189. 18828508 c.1676A>C p.D559A missense 0.00000825●●●●●●
190. 18828173 c.1341T>A p.D447E missense 0.00000825●●●●●●
191. 18807335 c.713A>C p.K238T missense 0.00000825●●●●●●
192. 18807349 c.723+4G>T splice site 0.00000825●●●●●●
193. 18816566 c.832G>T p.V278L missense 0.00000825●●●●●●
194. 18828203 c.1371delT p.Ser458LeufsTer57 frameshift 0.00000825●●●●●●
195. 18828169 c.1337G>A p.G446D missense 0.00000825●●●●●●
196. 18690890 c.89C>T p.S30F missense 0.00000825●●●●●●
197. 18828510 c.1678C>T p.R560X nonsense 0.00000825●●●●●●
198. 18828177 c.1345A>G p.R449G missense 0.00000825●●●●●●
199. 18807352 c.723+7A>C splice site 0.00000825●●●●●●
200. 18823136 c.1024G>T p.V342L missense 0.00000825●●●●●●
201. 18822998 c.893-7T>C splice site 0.00000825●●●●●●
202. 18807898 c.782+1G>A essential splice site 0.00000824●●●●●●
203. 18828250 c.1418A>C p.K473T missense 0.00000824●●●●●●
204. 18823025 c.913G>T p.E305X nonsense 0.00000824●●●●●●
205. 18787327 c.215G>A p.S72N missense 0.00000824●●●●●●
206. 18828427 c.1595G>T p.R532L missense 0.00000824●●●●●●
207. 18828417 c.1585G>C p.A529P missense 0.00000824●●●●●●
208. 18828388 c.1556A>G p.D519G missense 0.00000824●●●●●●
209. 18828303 c.1471_1472insCAAGT p.Arg493GlnfsTer24 frameshift 0.00000824●●●●●●
210. 18827118 c.1150G>A p.D384N missense 0.00000824●●●●●●
211. 18823067 c.955C>T p.L319F missense 0.00000824●●●●●●
212. 18828421 c.1589C>A p.Ser530Ter nonsense 0.00000824●●●●●●
213. 18787374 c.262T>A p.F88I missense 0.00000824●●●●●●
214. 18787350 c.238C>G p.P80A missense 0.00000824●●●●●●
215. 18828405 c.1573G>C p.V525L missense 0.00000824●●●●●●
216. 18828220 c.1388A>C p.E463A missense 0.00000824●●●●●●
217. 18827220 c.1252C>A p.P418T missense 0.00000824●●●●●●
218. 18803183 c.527C>G p.T176S missense 0.00000824●●●●●●
219. 18827180 c.1212G>C p.E404D missense 0.00000824●●●●●●
220. 18803174 c.518T>C p.I173T missense 0.00000824●●●●●●
221. 18828415 c.1583A>G p.Y528C missense 0.00000824●●●●●●
222. 18828384 c.1552G>A p.E518K missense 0.00000824●●●●●●
223. 18823113 c.1001C>T p.S334F missense 0.00000824●●●●●●
224. 18828252 c.1420T>G p.S474A missense 0.00000824●●●●●●
225. 18823065 c.953T>G p.V318G missense 0.00000824●●●●●●
226. 18787312 c.200C>A p.T67K missense 0.00000824●●●●●●
227. 18807893 c.778G>A p.G260R missense 0.00000824●●●●●●
228. 18828423 c.1591C>G p.H531D missense 0.00000824●●●●●●
229. 18827242 c.1274C>A p.T425K missense 0.00000824●●●●●●
230. 18803251 c.595G>A p.V199I missense 0.00000824●●●●●●
231. 18828438 c.1606C>A p.H536N missense 0.00000824●●●●●●
232. 18828388 c.1556A>C p.D519A missense 0.00000824●●●●●●
233. 18823118 c.1006G>A p.A336T missense 0.00000824●●●●●●
234. 18828331 c.1499C>T p.T500I missense 0.00000824●●●●●●
235. 18787376 c.264C>A p.F88L missense 0.00000824●●●●●●
236. 18787360 c.248G>A p.G83D missense 0.00000824●●●●●●
237. 18828237 c.1405G>C p.E469Q missense 0.00000824●●●●●●
238. 18823014 c.902A>G p.Q301R missense 0.00000824●●●●●●
239. 18828409 c.1577A>G p.D526G missense 0.00000824●●●●●●
240. 18827227 c.1259C>G p.P420R missense 0.00000824●●●●●●
241. 18803195 c.539C>A p.A180E missense 0.00000824●●●●●●
242. 18803180 c.524C>G p.A175G missense 0.00000824●●●●●●
243. 18803290 c.634T>C p.F212L missense 0.00000824●●●●●●
244. 18828455 c.1623_1624insG p.Ser543GlufsTer3 frameshift 0.00000824●●●●●●
245. 18787330 c.218C>G p.A73G missense 0.00000824●●●●●●
246. 18823119 c.1007C>T p.A336V missense 0.00000824●●●●●●
247. 18823073 c.961G>A p.A321T missense 0.00000824●●●●●●
248. 18823128 c.1016T>C p.I339T missense 0.00000824●●●●●●
249. 18803264 c.608A>G p.H203R missense 0.00000824●●●●●●
250. 18828390 c.1558T>G p.Y520D missense 0.00000824●●●●●●
251. 18828372 c.1540G>T p.V514L missense 0.00000824●●●●●●
252. 18828349 c.1517A>G p.Q506R missense 0.00000824●●●●●●
253. 18807278 c.656C>T p.P219L missense 0.00000824●●●●●●
254. 18823017 c.905G>A p.S302N missense 0.00000824●●●●●●
255. 18828276 c.1444G>A p.A482T missense 0.00000824●●●●●●
256. 18803159 c.509-6A>G splice site 0.00000824●●●●●●
257. 18828411 c.1579C>G p.H527D missense 0.00000824●●●●●●
258. 18803210 c.554T>C p.I185T missense 0.00000824●●●●●●
259. 18828370 c.1538A>G p.Y513C missense 0.00000824●●●●●●
260. 18823043 c.931G>A p.A311T missense 0.00000824●●●●●●
261. 18823104 c.992G>C p.S331T missense 0.00000824●●●●●●
262. 18787336 c.224A>T p.H75L missense 0.00000824●●●●●●
263. 18828294 c.1462C>G p.R488G missense 0.00000824●●●●●●
264. 18787370 c.258C>G p.I86M missense 0.00000824●●●●●●
265. 18828228 c.1396C>A p.P466T missense 0.00000824●●●●●●
266. 18828474 c.1642C>G p.H548D missense 0.00000824●●●●●●
267. 18807281 c.659C>T p.P220L missense 0.00000824●●●●●●
268. 18827277 c.1309C>G p.L437V missense 0.00000824●●●●●●
269. 18803279 c.623G>T p.R208I missense 0.00000824●●●●●●
270. 18827172 c.1204T>C p.Y402H missense 0.00000824●●●●●●
271. 18803168 c.512T>C p.I171T missense 0.00000824●●●●●●
272. 18787414 c.294+8G>T splice site 0.00000824●●●●●●
273. 18827197 c.1229C>A p.T410N 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.