ACTN2 non-truncating variants in ExAC

ACTN2 gene summary
ACTN2 variants in DCM, HCM

The table below lists the ACTN2 non-truncating 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. 236894607 c.690T>A p.D230E missense 0.00009885●●●●●●
2. 236902672 c.947T>C p.M316T missense 0.00009060●●●●●●
3. 236890997 c.556C>T p.L186F missense 0.00008237●●●●●●
4. 236910986 c.1426G>T p.A476S missense 0.00007530●●●●●●
5. 236911004 c.1444C>T p.R482W missense 0.00007480●●●●●●
6. 236882217 c.265C>T p.R89W missense 0.00007414●●●●●●
7. 236914936 c.1823G>A p.R608Q missense 0.00007414●●●●●●
8. 236902831 c.1106C>T p.S369L missense 0.00006795●●●●●●
9. 236907965 c.1295C>T p.A432V missense 0.00006629●●●●●●
10. 236881197 c.166G>A p.G56S missense 0.00006628●●●●●●
11. 236917299 c.1892G>A p.R631H missense 0.00006607●●●●●●
12. 236925789 c.2555G>A p.R852Q missense 0.00006604●●●●●●
13. 236924370 c.2423C>T p.T808I missense 0.00006591●●●●●●
14. 236907977 c.1307A>C p.E436A missense 0.00005791●●●●●●
15. 236925774 c.2540C>T p.A847V missense 0.00005783●●●●●●
16. 236914821 c.1708G>A p.G570R missense 0.00005771●●●●●●
17. 236902707 c.982C>T p.R328W missense 0.00005766●●●●●●
18. 236882283 c.331G>A p.G111R missense 0.00005766●●●●●●
19. 236902669 c.944C>A p.A315D missense 0.00005765●●●●●●
20. 236925836 c.2602G>A p.A868T missense 0.00004954●●●●●●
21. 236925786 c.2552G>A p.R851H missense 0.00004954●●●●●●
22. 236925801 c.2567C>T p.P856L missense 0.00004953●●●●●●
23. 236914827 c.1714C>T p.R572W missense 0.00004946●●●●●●
24. 236918328 c.1984C>T p.R662W missense 0.00004943●●●●●●
25. 236906260 c.1172A>G p.N391S missense 0.00004943●●●●●●
26. 236902651 c.926C>T p.P309L missense 0.00004942●●●●●●
27. 236920862 c.2231C>T p.T744M missense 0.00004942●●●●●●
28. 236891016 c.575G>A p.R192Q missense 0.00004942●●●●●●
29. 236918347 c.2003C>G p.T668R missense 0.00004942●●●●●●
30. 236850027 c.54G>C p.E18D missense 0.00004257●●●●●●
31. 236910993 c.1433A>T p.N478I missense 0.00004167●●●●●●
32. 236908028 c.1358C>T p.A453V missense 0.00004135●●●●●●
33. 236917316 c.1909C>T p.R637C missense 0.00004135●●●●●●
34. 236924454 c.2507G>A p.R836Q missense 0.00004132●●●●●●
35. 236912494 c.1586A>G p.N529S missense 0.00004119●●●●●●
36. 236906268 c.1180C>T p.R394W missense 0.00004119●●●●●●
37. 236906250 c.1162T>A p.W388R missense 0.00004119●●●●●●
38. 236920825 c.2194G>A p.A732T missense 0.00004118●●●●●●
39. 236920909 c.2278G>A p.A760T missense 0.00004118●●●●●●
40. 236925912 c.2678A>G p.D893G missense 0.00003463●●●●●●
41. 236902806 c.1081A>G p.M361V missense 0.00003318●●●●●●
42. 236918473 c.2129A>G p.N710S missense 0.00003310●●●●●●
43. 236907977 c.1307A>T p.E436V missense 0.00003309●●●●●●
44. 236918452 c.2108A>T p.Q703L missense 0.00003302●●●●●●
45. 236925803 c.2569G>C p.D857H missense 0.00003301●●●●●●
46. 236924430 c.2483C>T p.A828V missense 0.00003301●●●●●●
47. 236918426 c.2082G>C p.K694N missense 0.00003298●●●●●●
48. 236914828 c.1715G>A p.R572Q missense 0.00003297●●●●●●
49. 236912460 c.1552C>T p.H518Y missense 0.00003296●●●●●●
50. 236924372 c.2425G>A p.V809I missense 0.00003296●●●●●●
51. 236906280 c.1192C>T p.R398C missense 0.00003295●●●●●●
52. 236914938 c.1825A>C p.T609P missense 0.00003295●●●●●●
53. 236889292 c.508A>C p.N170H missense 0.00003295●●●●●●
54. 236902621 c.896G>A p.R299H missense 0.00003295●●●●●●
55. 236912532 c.1624A>G p.M542V missense 0.00003295●●●●●●
56. 236924360 c.2413G>A p.G805R missense 0.00003295●●●●●●
57. 236883462 c.419G>A p.R140H missense 0.00003295●●●●●●
58. 236925902 c.2668G>A p.G890R missense 0.00002553●●●●●●
59. 236911005 c.1445G>A p.R482Q missense 0.00002493●●●●●●
60. 236907958 c.1288G>C p.E430Q missense 0.00002488●●●●●●
61. 236917352 c.1945A>G p.I649V missense 0.00002485●●●●●●
62. 236908040 c.1370G>A p.R457H missense 0.00002482●●●●●●
63. 236907995 c.1325G>A p.R442Q missense 0.00002482●●●●●●
64. 236907974 c.1304C>T p.T435I missense 0.00002482●●●●●●
65. 236908018 c.1348G>A p.D450N missense 0.00002481●●●●●●
66. 236917269 c.1862G>A p.R621H missense 0.00002474●●●●●●
67. 236902783 c.1058G>A p.R353Q missense 0.00002473●●●●●●
68. 236918395 c.2051A>G p.N684S missense 0.00002472●●●●●●
69. 236924396 c.2449T>C p.F817L missense 0.00002472●●●●●●
70. 236918412 c.2068_2070delAAC p.Asn690del inframe 0.00002472●●●●●●
71. 236902624 c.899C>T p.T300M missense 0.00002471●●●●●●
72. 236912514 c.1606A>G p.M536V missense 0.00002471●●●●●●
73. 236918380 c.2036A>G p.K679R missense 0.00002471●●●●●●
74. 236918329 c.1985G>A p.R662Q missense 0.00002471●●●●●●
75. 236920793 c.2162G>A p.R721H missense 0.00002471●●●●●●
76. 236923045 c.2323C>T p.H775Y missense 0.00002471●●●●●●
77. 236918383 c.2039A>G p.Q680R missense 0.00002471●●●●●●
78. 236902662 c.937A>T p.M313L missense 0.00002471●●●●●●
79. 236906281 c.1193G>A p.R398H missense 0.00002471●●●●●●
80. 236902704 c.979C>T p.R327C missense 0.00002471●●●●●●
81. 236850086 c.113A>G p.K38R missense 0.00001902●●●●●●
82. 236925882 c.2648C>T p.A883V missense 0.00001667●●●●●●
83. 236907941 c.1271T>C p.L424S missense 0.00001664●●●●●●
84. 236925878 c.2644G>A p.A882T missense 0.00001663●●●●●●
85. 236917353 c.1946T>C p.I649T missense 0.00001657●●●●●●
86. 236918482 c.2138C>T p.T713M missense 0.00001657●●●●●●
87. 236908063 c.1393G>A p.A465T missense 0.00001656●●●●●●
88. 236908054 c.1384G>T p.A462S missense 0.00001655●●●●●●
89. 236925863 c.2629G>T p.G877C missense 0.00001655●●●●●●
90. 236917313 c.1906G>A p.E636K missense 0.00001654●●●●●●
91. 236908007 c.1337C>T p.A446V missense 0.00001654●●●●●●
92. 236898940 c.703G>A p.V235M missense 0.00001654●●●●●●
93. 236898982 c.745G>A p.V249I missense 0.00001651●●●●●●
94. 236902795 c.1070G>A p.R357H missense 0.00001651●●●●●●
95. 236924429 c.2482G>A p.A828T missense 0.00001650●●●●●●
96. 236906327 c.1239C>G p.H413Q missense 0.00001649●●●●●●
97. 236902782 c.1057C>T p.R353W missense 0.00001649●●●●●●
98. 236914891 c.1778T>C p.I593T missense 0.00001648●●●●●●
99. 236912446 c.1538C>A p.T513N missense 0.00001648●●●●●●
100. 236914925 c.1812G>A p.M604I missense 0.00001648●●●●●●
101. 236918418 c.2074A>G p.I692V missense 0.00001648●●●●●●
102. 236918322 c.1978A>T p.I660F missense 0.00001648●●●●●●
103. 236918413 c.2069A>G p.N690S missense 0.00001648●●●●●●
104. 236912533 c.1625T>G p.M542R missense 0.00001648●●●●●●
105. 236912457 c.1549C>T p.L517F missense 0.00001648●●●●●●
106. 236902643 c.918C>A p.N306K missense 0.00001647●●●●●●
107. 236891021 c.580C>T p.R194W missense 0.00001647●●●●●●
108. 236912508 c.1600G>A p.G534S missense 0.00001647●●●●●●
109. 236882201 c.249G>C p.R83S missense 0.00001647●●●●●●
110. 236906233 c.1145A>G p.E382G missense 0.00001647●●●●●●
111. 236902644 c.919C>T p.R307W missense 0.00001647●●●●●●
112. 236920853 c.2222A>G p.Q741R missense 0.00001647●●●●●●
113. 236920792 c.2161C>T p.R721C missense 0.00001647●●●●●●
114. 236906244 c.1156G>A p.E386K missense 0.00001647●●●●●●
115. 236906205 c.1117G>A p.G373S missense 0.00001647●●●●●●
116. 236912502 c.1594A>T p.M532L missense 0.00001647●●●●●●
117. 236902695 c.970C>T p.R324W missense 0.00001647●●●●●●
118. 236920810 c.2179C>G p.L727V missense 0.00001647●●●●●●
119. 236889301 c.517A>G p.I173V missense 0.00001647●●●●●●
120. 236850095 c.122G>A p.R41K missense 0.00001026●●●●●●
121. 236881263 c.232G>T p.V78F missense 0.00000902●●●●●●
122. 236850058 c.85G>A p.D29N missense 0.00000874●●●●●●
123. 236850052 c.79G>A p.D27N missense 0.00000867●●●●●●
124. 236925911 c.2677G>T p.D893Y missense 0.00000866●●●●●●
125. 236850032 c.59T>C p.M20T missense 0.00000853●●●●●●
126. 236849979 c.6C>A p.N2K missense 0.00000852●●●●●●
127. 236849985 c.12A>G p.I4M missense 0.00000850●●●●●●
128. 236850019 c.46G>A p.E16K missense 0.00000850●●●●●●
129. 236850014 c.41_43delACG p.Asp15del inframe 0.00000849●●●●●●
130. 236910975 c.1415A>T p.D472V missense 0.00000849●●●●●●
131. 236902824 c.1099A>G p.M367V missense 0.00000841●●●●●●
132. 236900425 c.787G>C p.E263Q missense 0.00000840●●●●●●
133. 236911035 c.1475G>A p.R492Q missense 0.00000840●●●●●●
134. 236925890 c.2656T>C p.S886P missense 0.00000836●●●●●●
135. 236902815 c.1090G>A p.E364K missense 0.00000834●●●●●●
136. 236907936 c.1266G>C p.Q422H missense 0.00000834●●●●●●
137. 236899019 c.782A>T p.Q261L missense 0.00000833●●●●●●
138. 236881224 c.193G>A p.D65N missense 0.00000832●●●●●●
139. 236900443 c.805A>G p.I269V missense 0.00000831●●●●●●
140. 236914771 c.1658G>C p.S553T missense 0.00000831●●●●●●
141. 236881176 c.145A>C p.N49H missense 0.00000831●●●●●●
142. 236917376 c.1969A>T p.M657L missense 0.00000831●●●●●●
143. 236899013 c.776C>T p.A259V missense 0.00000830●●●●●●
144. 236917367 c.1960C>A p.Q654K missense 0.00000829●●●●●●
145. 236917359 c.1952C>T p.P651L missense 0.00000829●●●●●●
146. 236907958 c.1288G>A p.E430K missense 0.00000829●●●●●●
147. 236899007 c.770C>T p.A257V missense 0.00000829●●●●●●
148. 236881198 c.167G>A p.G56D missense 0.00000829●●●●●●
149. 236908064 c.1394C>A p.A465E missense 0.00000828●●●●●●
150. 236908064 c.1394C>T p.A465V missense 0.00000828●●●●●●
151. 236908060 c.1390A>G p.I464V missense 0.00000828●●●●●●
152. 236908002 c.1332C>G p.H444Q missense 0.00000827●●●●●●
153. 236907994 c.1324C>T p.R442W missense 0.00000827●●●●●●
154. 236908039 c.1369C>T p.R457C missense 0.00000827●●●●●●
155. 236908013 c.1343A>G p.E448G missense 0.00000827●●●●●●
156. 236925762 c.2528C>A p.P843Q missense 0.00000827●●●●●●
157. 236908003 c.1333G>A p.E445K missense 0.00000827●●●●●●
158. 236917325 c.1918C>T p.R640C missense 0.00000827●●●●●●
159. 236907979 c.1309G>A p.V437M missense 0.00000827●●●●●●
160. 236925762 c.2528C>T p.P843L missense 0.00000827●●●●●●
161. 236908040 c.1370G>T p.R457L missense 0.00000827●●●●●●
162. 236908018 c.1348G>T p.D450Y missense 0.00000827●●●●●●
163. 236917326 c.1919G>A p.R640H missense 0.00000827●●●●●●
164. 236907998 c.1328A>T p.K443M missense 0.00000827●●●●●●
165. 236907983 c.1313G>A p.R438Q missense 0.00000827●●●●●●
166. 236907982 c.1312C>T p.R438W missense 0.00000827●●●●●●
167. 236908012 c.1342G>C p.E448Q missense 0.00000827●●●●●●
168. 236925788 c.2554C>T p.R852W missense 0.00000826●●●●●●
169. 236925843 c.2609C>T p.S870L missense 0.00000826●●●●●●
170. 236925849 c.2615C>A p.P872Q missense 0.00000826●●●●●●
171. 236925828 c.2594G>C p.R865T missense 0.00000826●●●●●●
172. 236924441 c.2494A>T p.I832F missense 0.00000826●●●●●●
173. 236924435 c.2488C>A p.Q830K missense 0.00000826●●●●●●
174. 236898947 c.710C>T p.T237I missense 0.00000826●●●●●●
175. 236925848 c.2614C>T p.P872S missense 0.00000826●●●●●●
176. 236912430 c.1522G>A p.E508K missense 0.00000825●●●●●●
177. 236925807 c.2573A>C p.Q858P missense 0.00000825●●●●●●
178. 236924432 c.2485G>A p.E829K missense 0.00000825●●●●●●
179. 236902794 c.1069C>T p.R357C missense 0.00000825●●●●●●
180. 236925821 c.2587A>C p.I863L missense 0.00000825●●●●●●
181. 236924426 c.2479A>G p.T827A missense 0.00000825●●●●●●
182. 236918434 c.2090G>A p.G697E missense 0.00000825●●●●●●
183. 236925810 c.2576C>T p.A859V missense 0.00000825●●●●●●
184. 236924433 c.2486A>G p.E829G missense 0.00000825●●●●●●
185. 236917268 c.1861C>T p.R621C missense 0.00000825●●●●●●
186. 236914816 c.1703C>G p.A568G missense 0.00000825●●●●●●
187. 236918448 c.2104A>G p.I702V missense 0.00000825●●●●●●
188. 236925797 c.2563C>T p.P855S missense 0.00000825●●●●●●
189. 236925812 c.2578C>G p.Q860E missense 0.00000825●●●●●●
190. 236918450 c.2106C>G p.I702M missense 0.00000825●●●●●●
191. 236917272 c.1865A>G p.D622G missense 0.00000825●●●●●●
192. 236902792 c.1067A>G p.N356S missense 0.00000825●●●●●●
193. 236925813 c.2579A>G p.Q860R missense 0.00000825●●●●●●
194. 236923046 c.2324A>T p.H775L missense 0.00000824●●●●●●
195. 236902621 c.896G>T p.R299L missense 0.00000824●●●●●●
196. 236924370 c.2423C>G p.T808S missense 0.00000824●●●●●●
197. 236914906 c.1793C>T p.P598L missense 0.00000824●●●●●●
198. 236906326 c.1238A>T p.H413L missense 0.00000824●●●●●●
199. 236891030 c.589C>T p.L197F missense 0.00000824●●●●●●
200. 236912507 c.1599G>C p.E533D missense 0.00000824●●●●●●
201. 236883483 c.440C>T p.S147L missense 0.00000824●●●●●●
202. 236914861 c.1748A>C p.E583A missense 0.00000824●●●●●●
203. 236920908 c.2277A>T p.R759S missense 0.00000824●●●●●●
204. 236906215 c.1127A>G p.Q376R missense 0.00000824●●●●●●
205. 236902726 c.1001A>G p.K334R missense 0.00000824●●●●●●
206. 236890982 c.541A>G p.K181E missense 0.00000824●●●●●●
207. 236924334 c.2387G>A p.R796H missense 0.00000824●●●●●●
208. 236914836 c.1723A>G p.I575V missense 0.00000824●●●●●●
209. 236923058 c.2336G>A p.R779K missense 0.00000824●●●●●●
210. 236906289 c.1201C>T p.H401Y missense 0.00000824●●●●●●
211. 236906269 c.1181G>A p.R394Q missense 0.00000824●●●●●●
212. 236920857 c.2226C>G p.I742M missense 0.00000824●●●●●●
213. 236920844 c.2213T>A p.V738E missense 0.00000824●●●●●●
214. 236912461 c.1553A>C p.H518P missense 0.00000824●●●●●●
215. 236882227 c.275T>C p.M92T missense 0.00000824●●●●●●
216. 236902680 c.955A>G p.K319E missense 0.00000824●●●●●●
217. 236902615 c.890T>C p.I297T missense 0.00000824●●●●●●
218. 236902621 c.896G>C p.R299P missense 0.00000824●●●●●●
219. 236924383 c.2436A>T p.Q812H missense 0.00000824●●●●●●
220. 236914924 c.1811T>C p.M604T missense 0.00000824●●●●●●
221. 236894563 c.646A>G p.M216V missense 0.00000824●●●●●●
222. 236891052 c.611A>G p.N204S missense 0.00000824●●●●●●
223. 236912554 c.1646A>T p.E549V missense 0.00000824●●●●●●
224. 236912515 c.1607T>C p.M536T missense 0.00000824●●●●●●
225. 236906196 c.1108G>A p.D370N missense 0.00000824●●●●●●
226. 236889235 c.451A>G p.T151A missense 0.00000824●●●●●●
227. 236920795 c.2164G>A p.V722I missense 0.00000824●●●●●●
228. 236902728 c.1003G>T p.V335L missense 0.00000824●●●●●●
229. 236918396 c.2052_2054delCAT p.Ile686del inframe 0.00000824●●●●●●
230. 236902771 c.1046A>T p.Q349L missense 0.00000824●●●●●●
231. 236920831 c.2200A>G p.T734A missense 0.00000824●●●●●●
232. 236906320 c.1232C>T p.S411L missense 0.00000824●●●●●●
233. 236891022 c.581G>A p.R194Q missense 0.00000824●●●●●●
234. 236882230 c.278G>A p.R93Q missense 0.00000824●●●●●●
235. 236894603 c.686T>G p.L229W missense 0.00000824●●●●●●
236. 236924358 c.2411A>G p.N804S missense 0.00000824●●●●●●
237. 236914851 c.1738A>G p.N580D missense 0.00000824●●●●●●
238. 236912511 c.1603G>T p.A535S missense 0.00000824●●●●●●
239. 236912481 c.1573G>A p.A525T missense 0.00000824●●●●●●
240. 236882229 c.277C>T p.R93W missense 0.00000824●●●●●●
241. 236914917 c.1804G>A p.V602I missense 0.00000824●●●●●●
242. 236902708 c.983G>A p.R328Q missense 0.00000824●●●●●●
243. 236902624 c.899C>A p.T300K missense 0.00000824●●●●●●
244. 236891053 c.612C>G p.N204K missense 0.00000824●●●●●●
245. 236923077 c.2355G>T p.M785I missense 0.00000824●●●●●●
246. 236920919 c.2288A>G p.N763S missense 0.00000824●●●●●●
247. 236890997 c.556C>G p.L186V missense 0.00000824●●●●●●
248. 236889293 c.509A>T p.N170I missense 0.00000824●●●●●●
249. 236882253 c.301A>G p.N101D missense 0.00000824●●●●●●
250. 236912448 c.1540A>G p.I514V missense 0.00000824●●●●●●
251. 236902734 c.1009G>C p.E337Q missense 0.00000824●●●●●●
252. 236920840 c.2209G>A p.E737K missense 0.00000824●●●●●●
253. 236920883 c.2252C>T p.T751I missense 0.00000824●●●●●●
254. 236914822 c.1709G>A p.G570E missense 0.00000824●●●●●●
255. 236906322 c.1234A>G p.T412A missense 0.00000824●●●●●●
256. 236891025 c.584C>T p.P195L missense 0.00000824●●●●●●
257. 236906203 c.1115C>G p.A372G missense 0.00000824●●●●●●
258. 236914888 c.1775G>T p.R592I missense 0.00000824●●●●●●
259. 236883444 c.401T>C p.I134T missense 0.00000824●●●●●●
260. 236914884 c.1771A>G p.I591V missense 0.00000824●●●●●●
261. 236920895 c.2264T>C p.M755T missense 0.00000824●●●●●●
262. 236912512 c.1604C>T p.A535V missense 0.00000824●●●●●●
263. 236912490 c.1582T>C p.F528L missense 0.00000824●●●●●●
264. 236902719 c.994C>T p.P332S missense 0.00000824●●●●●●
265. 236902639 c.914A>C p.E305A missense 0.00000824●●●●●●
266. 236918364 c.2020C>A p.Q674K missense 0.00000824●●●●●●
267. 236902705 c.980G>A p.R327H missense 0.00000824●●●●●●
268. 236894546 c.629G>A p.G210E missense 0.00000824●●●●●●
269. 236924399 c.2452A>G p.M818V missense 0.00000824●●●●●●
270. 236914935 c.1822C>T p.R608W missense 0.00000824●●●●●●
271. 236924333 c.2386C>T p.R796C missense 0.00000824●●●●●●
272. 236920920 c.2289C>A p.N763K missense 0.00000824●●●●●●
273. 236906262 c.1174G>A p.E392K missense 0.00000824●●●●●●
274. 236891006 c.565C>G p.L189V missense 0.00000824●●●●●●
275. 236914879 c.1766_1768delACA p.Asn590del inframe 0.00000824●●●●●●
276. 236920842 c.2211G>T p.E737D missense 0.00000824●●●●●●
277. 236882218 c.266G>A p.R89Q missense 0.00000824●●●●●●
278. 236902764 c.1039A>T p.T347S missense 0.00000824●●●●●●
279. 236912449 c.1541T>C p.I514T missense 0.00000824●●●●●●
280. 236920855 c.2224A>T p.I742F missense 0.00000824●●●●●●
281. 236918421 c.2077G>A p.D693N 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.