ENG variants in ExAC

ENG gene summary
ENG variants in

The table below lists the ENG 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. 130616621 c.14C>T p.T5M missense 0.04817561●●●●●●
2. 130588091 c.572G>A p.G191D missense 0.01522420●●●●●●
3. 130586621 c.1096G>C p.D366H missense 0.00849162●●●●●●
4. 130588920 c.392C>T p.P131L missense 0.00515387●●●●●●
5. 130578230 c.1844C>T p.S615L missense 0.00258057●●●●●●
6. 130580575 c.1510G>A p.V504M missense 0.00130522●●●●●●
7. 130588924 c.388C>T p.P130S missense 0.00055606●●●●●●
8. 130616628 c.7C>T p.R3C missense 0.00054554●●●●●●
9. 130580452 c.1633G>A p.G545S missense 0.00052049●●●●●●
10. 130587976 c.687C>T p.A229A splice site 0.00045159●●●●●●
11. 130578312 c.1762G>A p.V588I missense 0.00043925●●●●●●
12. 130605413 c.179C>A p.A60D missense 0.00041239●●●●●●
13. 130588067 c.596G>A p.R199H missense 0.00029012●●●●●●
14. 0 c.1687-15_1687-12delCTCT splice site 0.00026642●●●●●●
15. 130582323 c.1135-7G>A splice site 0.00026033●●●●●●
16. 130588089 c.574C>G p.R192G missense 0.00022484●●●●●●
17. 130580638 c.1447G>A p.V483I missense 0.00021087●●●●●●
18. 130579457 c.1712G>A p.R571H missense 0.00019867●●●●●●
19. 130592004 c.322C>T p.H108Y missense 0.00016664●●●●●●
20. 130578004 c.1934G>C p.G645A missense 0.00016654●●●●●●
21. 130588085 c.578C>T p.T193M missense 0.00016327●●●●●●
22. 130580393 c.1686+6T>G splice site 0.00015768●●●●●●
23. 130588023 c.640G>A p.G214S missense 0.00015525●●●●●●
24. 130580661 c.1429-5_1429-4insCCCA splice site 0.00015394●●●●●●
25. 130580413 c.1672G>A p.G558R missense 0.00013243●●●●●●
26. 130587975 c.688G>A p.G230R missense 0.00013001●●●●●●
27. 130588068 c.595C>T p.R199C missense 0.00012439●●●●●●
28. 130587632 c.694C>T p.R232W missense 0.00011807●●●●●●
29. 130587096 c.974T>A p.L325H missense 0.00011062●●●●●●
30. 130578034 c.1904C>T p.S635L missense 0.00011055●●●●●●
31. 130587220 c.850G>A p.E284K missense 0.00010749●●●●●●
32. 130581107 c.1316A>C p.K439T missense 0.00009061●●●●●●
33. 130591966 c.360C>T splice site 0.00008443●●●●●●
34. 130578008 c.1930A>C p.I644L missense 0.00008422●●●●●●
35. 130582324 c.1135-8C>T splice site 0.00008418●●●●●●
36. 130588098 c.565G>A p.D189N missense 0.00008267●●●●●●
37. 130605533 c.68-9C>G splice site 0.00008264●●●●●●
38. 130605374 c.218C>T p.T73M missense 0.00008260●●●●●●
39. 130577968 c.1970T>C p.M657T missense 0.00008198●●●●●●
40. 130592076 c.250G>C p.A84P missense 0.00007433●●●●●●
41. 130605471 c.121G>A p.E41K missense 0.00007420●●●●●●
42. 130582192 c.1259T>C p.M420T missense 0.00006590●●●●●●
43. 130578223 c.1851G>A splice site 0.00006492●●●●●●
44. 130578055 c.1883C>T p.A628V missense 0.00006213●●●●●●
45. 130588070 c.593C>A p.P198Q missense 0.00006178●●●●●●
46. 130578043 c.1895C>T p.P632L missense 0.00005982●●●●●●
47. 130587584 c.742G>A p.D248N missense 0.00005848●●●●●●
48. 130581943 c.1273-4G>A splice site 0.00005848●●●●●●
49. 130580424 c.1661G>A p.R554H missense 0.00005786●●●●●●
50. 130586574 c.1134+9A>T splice site 0.00005770●●●●●●
51. 130588054 c.609G>C p.L203F missense 0.00005640●●●●●●
52. 130588029 c.634G>A p.V212M missense 0.00005197●●●●●●
53. 130586730 c.992-5C>A splice site 0.00005002●●●●●●
54. 130580391 c.1686+8G>C splice site 0.00004982●●●●●●
55. 130580403 c.1682A>C p.D561A missense 0.00004971●●●●●●
56. 130605523 c.69T>C p.S23S splice site 0.00004954●●●●●●
57. 130605480 c.112G>A p.E38K missense 0.00004947●●●●●●
58. 130586584 c.1133C>T p.A378V missense 0.00004946●●●●●●
59. 130580664 c.1429-8C>T splice site 0.00004286●●●●●●
60. 130578224 c.1850C>T p.T617M missense 0.00004257●●●●●●
61. 130587578 c.748G>A p.V250I missense 0.00004175●●●●●●
62. 130577963 c.1975T>C p.Ter659GlnextTer22 nonsense 0.00004175●●●●●●
63. 130587261 c.817-8A>G splice site 0.00004163●●●●●●
64. 130578007 c.1931T>G p.I644S missense 0.00004162●●●●●●
65. 130587983 c.680A>G p.H227R missense 0.00004154●●●●●●
66. 130592048 c.278G>A p.R93Q missense 0.00004138●●●●●●
67. 130586624 c.1093G>A p.D365N missense 0.00004122●●●●●●
68. 130588074 c.589C>T p.R197W missense 0.00004090●●●●●●
69. 130588073 c.590G>A p.R197Q missense 0.00004028●●●●●●
70. 130577983 c.1955G>C p.C652S missense 0.00004025●●●●●●
71. 130588061 c.602C>A p.P201Q missense 0.00004000●●●●●●
72. 130588058 c.605C>A p.A202D missense 0.00003965●●●●●●
73. 130588049 c.614G>A p.R205Q missense 0.00003740●●●●●●
74. 130588050 c.613C>T p.R205W missense 0.00003739●●●●●●
75. 130587998 c.665G>A p.R222K missense 0.00003710●●●●●●
76. 130587080 c.990C>T p.C330C splice site 0.00003536●●●●●●
77. 130578303 c.1771G>A p.A591T missense 0.00003488●●●●●●
78. 130587631 c.695G>A p.R232Q missense 0.00003373●●●●●●
79. 130588870 c.442G>C p.E148Q missense 0.00003306●●●●●●
80. 130588800 c.512G>T p.R171L missense 0.00003306●●●●●●
81. 130580430 c.1655C>T p.A552V missense 0.00003306●●●●●●
82. 130580448 c.1637C>T p.T546I missense 0.00003305●●●●●●
83. 130586650 c.1067T>C p.M356T missense 0.00003299●●●●●●
84. 130605434 c.158G>A p.C53Y missense 0.00003298●●●●●●
85. 130586618 c.1099G>A p.A367T missense 0.00003297●●●●●●
86. 130582199 c.1252G>C p.A418P missense 0.00003295●●●●●●
87. 130581015 c.1408G>C p.G470R missense 0.00003295●●●●●●
88. 130581033 c.1390T>A p.S464T missense 0.00003295●●●●●●
89. 130616571 c.64A>G p.T22A missense 0.00003204●●●●●●
90. 130616573 c.62C>G p.P21R missense 0.00003130●●●●●●
91. 130587105 c.965T>C p.I322T missense 0.00002902●●●●●●
92. 130616587 c.48C>G p.S16R missense 0.00002755●●●●●●
93. 130587127 c.943G>A p.V315M missense 0.00002676●●●●●●
94. 130587640 c.690-4G>A splice site 0.00002535●●●●●●
95. 130587641 c.690-5C>A splice site 0.00002534●●●●●●
96. 130587641 c.690-5C>T splice site 0.00002534●●●●●●
97. 130616604 c.31G>A p.A11T missense 0.00002532●●●●●●
98. 130587632 c.694C>G p.R232G missense 0.00002530●●●●●●
99. 130587159 c.911G>A p.R304Q missense 0.00002529●●●●●●
100. 130587628 c.698C>T p.T233M missense 0.00002525●●●●●●
101. 130587593 c.733G>A p.G245R missense 0.00002509●●●●●●
102. 130587599 c.727G>A p.A243T missense 0.00002509●●●●●●
103. 130580557 c.1528C>T p.R510W missense 0.00002489●●●●●●
104. 130580559 c.1526G>C p.G509A missense 0.00002489●●●●●●
105. 130580547 c.1538A>G p.K513R missense 0.00002486●●●●●●
106. 130582297 c.1154C>T p.T385M missense 0.00002483●●●●●●
107. 130579458 c.1711C>A p.R571S missense 0.00002483●●●●●●
108. 130587207 c.863G>A p.R288H missense 0.00002480●●●●●●
109. 130592112 c.220-6C>A splice site 0.00002478●●●●●●
110. 130586677 c.1040A>G p.K347R missense 0.00002477●●●●●●
111. 130582193 c.1258A>G p.M420V missense 0.00002471●●●●●●
112. 130578324 c.1750A>C p.S584R missense 0.00002316●●●●●●
113. 130581938 c.1274C>T p.A425V missense 0.00002275●●●●●●
114. 130588124 c.539C>T p.S180F missense 0.00002207●●●●●●
115. 130578224 c.1850C>A p.T617K missense 0.00002128●●●●●●
116. 130588102 c.561C>A p.S187R missense 0.00002074●●●●●●
117. 130588098 c.565G>T p.D189Y missense 0.00002067●●●●●●
118. 130588070 c.593C>T p.P198L missense 0.00002059●●●●●●
119. 130588095 c.568A>G p.M190V missense 0.00002057●●●●●●
120. 130588085 c.578C>A p.T193K missense 0.00002041●●●●●●
121. 130587989 c.674C>T p.P225L missense 0.00002037●●●●●●
122. 130578230 c.1844C>G p.S615W missense 0.00001970●●●●●●
123. 130588036 c.627G>C p.L209F missense 0.00001759●●●●●●
124. 130587150 c.920A>G p.N307S missense 0.00001701●●●●●●
125. 130580652 c.1433G>T p.R478I missense 0.00001699●●●●●●
126. 130591982 c.344C>T p.P115L missense 0.00001676●●●●●●
127. 130591983 c.343C>A p.P115T missense 0.00001676●●●●●●
128. 130591995 c.331G>A p.A111T missense 0.00001670●●●●●●
129. 130587533 c.793G>A p.A265T missense 0.00001667●●●●●●
130. 130580587 c.1498G>A p.E500K missense 0.00001665●●●●●●
131. 130580578 c.1507A>G p.T503A missense 0.00001663●●●●●●
132. 130586702 c.1015G>A p.A339T missense 0.00001658●●●●●●
133. 130579467 c.1702G>A p.V568I missense 0.00001657●●●●●●
134. 130580403 c.1682A>G p.D561G missense 0.00001657●●●●●●
135. 130579458 c.1711C>T p.R571C missense 0.00001656●●●●●●
136. 130586698 c.1019C>T p.P340L missense 0.00001656●●●●●●
137. 130579439 c.1730C>G p.P577R missense 0.00001655●●●●●●
138. 130587231 c.839A>G p.K280R missense 0.00001655●●●●●●
139. 130588899 c.413T>C p.L138P missense 0.00001655●●●●●●
140. 130588800 c.512G>A p.R171Q missense 0.00001653●●●●●●
141. 130580500 c.1585C>T p.R529C missense 0.00001653●●●●●●
142. 130588854 c.458G>T p.R153M missense 0.00001652●●●●●●
143. 130605416 c.176A>G p.N59S missense 0.00001649●●●●●●
144. 130586650 c.1067T>A p.M356K missense 0.00001649●●●●●●
145. 130605474 c.118G>T p.G40C missense 0.00001649●●●●●●
146. 130586622 c.1095C>G p.D365E missense 0.00001649●●●●●●
147. 130582234 c.1217G>A p.R406H missense 0.00001648●●●●●●
148. 130586609 c.1108C>G p.L370V missense 0.00001648●●●●●●
149. 130581035 c.1388C>T p.A463V missense 0.00001647●●●●●●
150. 130581017 c.1406C>T p.P469L missense 0.00001647●●●●●●
151. 130581109 c.1314A>G splice site 0.00001647●●●●●●
152. 130587076 c.991+3G>A splice site 0.00001230●●●●●●
153. 130578281 c.1793G>C p.G598A missense 0.00001210●●●●●●
154. 130581944 c.1273-5C>T splice site 0.00001174●●●●●●
155. 130578329 c.1745G>C p.C582S missense 0.00001168●●●●●●
156. 130578323 c.1751G>A p.S584N missense 0.00001162●●●●●●
157. 130578302 c.1772C>T p.A591V missense 0.00001159●●●●●●
158. 130578308 c.1766T>C p.L589P missense 0.00001155●●●●●●
159. 130578319 c.1755A>C p.K585N missense 0.00001154●●●●●●
160. 130578315 c.1759C>T p.L587F missense 0.00001154●●●●●●
161. 130581941 c.1273-2A>G essential splice site 0.00001150●●●●●●
162. 130581920 c.1292C>T p.S431L missense 0.00001032●●●●●●
163. 130581917 c.1295G>C p.S432T missense 0.00001017●●●●●●
164. 130587128 c.942C>A p.F314L missense 0.00000888●●●●●●
165. 130587135 c.935C>T p.A312V missense 0.00000873●●●●●●
166. 130580663 c.1429-7C>T splice site 0.00000857●●●●●●
167. 130580664 c.1429-8C>G splice site 0.00000857●●●●●●
168. 130580661 c.1429-5T>C splice site 0.00000855●●●●●●
169. 130580651 c.1434A>T p.R478S missense 0.00000849●●●●●●
170. 130587635 c.691C>A p.P231T missense 0.00000843●●●●●●
171. 130587635 c.691C>T p.P231S missense 0.00000843●●●●●●
172. 130587620 c.706G>A p.V236M missense 0.00000841●●●●●●
173. 130582323 c.1135-7G>C splice site 0.00000840●●●●●●
174. 130587160 c.910C>G p.R304G missense 0.00000840●●●●●●
175. 130582323 c.1135-7_1135-6insC splice site 0.00000840●●●●●●
176. 130582320 c.1135-4_1135-3insA splice site 0.00000838●●●●●●
177. 130580622 c.1463T>G p.L488R missense 0.00000838●●●●●●
178. 130591980 c.346C>G p.L116V missense 0.00000838●●●●●●
179. 130582321 c.1135-5C>A splice site 0.00000838●●●●●●
180. 130582320 c.1135-4C>T splice site 0.00000838●●●●●●
181. 130587608 c.718C>G p.L240V missense 0.00000837●●●●●●
182. 130587617 c.709_714dupAAGGTG p.Lys237_Val238dup inframe 0.00000837●●●●●●
183. 130588956 c.361-5C>T splice site 0.00000837●●●●●●
184. 130587599 c.727G>C p.A243P missense 0.00000836●●●●●●
185. 130580616 c.1469T>C p.L490S missense 0.00000836●●●●●●
186. 130582316 c.1135C>G p.H379D missense 0.00000835●●●●●●
187. 130586731 c.992-6C>T splice site 0.00000835●●●●●●
188. 130587556 c.770C>T p.P257L missense 0.00000834●●●●●●
189. 130587504 c.816+6T>C splice site 0.00000834●●●●●●
190. 130588947 c.365C>T p.S122F missense 0.00000834●●●●●●
191. 130580605 c.1480C>G p.H494D missense 0.00000834●●●●●●
192. 130587560 c.766C>A p.P256T missense 0.00000834●●●●●●
193. 130587560 c.766C>T p.P256S missense 0.00000834●●●●●●
194. 130587502 c.816+8G>A splice site 0.00000834●●●●●●
195. 130586730 c.992-5C>G splice site 0.00000834●●●●●●
196. 130587554 c.772T>G p.Y258D missense 0.00000834●●●●●●
197. 130587569 c.757C>G p.L253V missense 0.00000834●●●●●●
198. 130587502 c.816+8G>C splice site 0.00000834●●●●●●
199. 130587520 c.806T>C p.M269T missense 0.00000833●●●●●●
200. 130587517 c.809A>G p.Q270R missense 0.00000833●●●●●●
201. 130580592 c.1493G>A p.G498E missense 0.00000833●●●●●●
202. 130579489 c.1687-7C>T splice site 0.00000832●●●●●●
203. 130588938 c.374T>C p.V125A missense 0.00000832●●●●●●
204. 130587257 c.817-4T>C splice site 0.00000832●●●●●●
205. 130580587 c.1498G>C p.E500Q missense 0.00000832●●●●●●
206. 130587258 c.817-5A>G splice site 0.00000832●●●●●●
207. 130592016 c.310A>G p.S104G missense 0.00000831●●●●●●
208. 130580391 c.1686+8G>A splice site 0.00000830●●●●●●
209. 130580566 c.1519A>G p.I507V missense 0.00000830●●●●●●
210. 130588920 c.392C>A p.P131Q missense 0.00000830●●●●●●
211. 130580569 c.1516C>T p.L506F missense 0.00000830●●●●●●
212. 130580554 c.1531G>C p.A511P missense 0.00000829●●●●●●
213. 130592027 c.299G>C p.S100T missense 0.00000829●●●●●●
214. 130580553 c.1532C>T p.A511V missense 0.00000829●●●●●●
215. 130588912 c.400A>G p.N134D missense 0.00000829●●●●●●
216. 130592031 c.295C>T p.L99F missense 0.00000829●●●●●●
217. 130580556 c.1529G>A p.R510Q missense 0.00000829●●●●●●
218. 130579445 c.1724_1726delTCA p.Ile575del inframe 0.00000828●●●●●●
219. 130587180 c.890A>C p.Q297P missense 0.00000828●●●●●●
220. 130586699 c.1018C>T p.P340S missense 0.00000828●●●●●●
221. 130582301 c.1150A>G p.I384V missense 0.00000828●●●●●●
222. 130592043 c.283G>A p.V95M missense 0.00000828●●●●●●
223. 130586693 c.1024C>G p.Q342E missense 0.00000828●●●●●●
224. 130579459 c.1710G>T p.M570I missense 0.00000828●●●●●●
225. 130579421 c.1741+7T>C splice site 0.00000828●●●●●●
226. 130586695 c.1022T>C p.I341T missense 0.00000828●●●●●●
227. 130579449 c.1720A>G p.I574V missense 0.00000828●●●●●●
228. 130579433 c.1736T>C p.L579P missense 0.00000828●●●●●●
229. 130580517 c.1568G>A p.S523N missense 0.00000827●●●●●●
230. 130587208 c.862C>T p.R288C missense 0.00000827●●●●●●
231. 130580503 c.1582C>T p.P528S missense 0.00000827●●●●●●
232. 130592055 c.271T>C p.W91R missense 0.00000827●●●●●●
233. 130580502 c.1583C>T p.P528L missense 0.00000827●●●●●●
234. 130587199 c.871A>G p.K291E missense 0.00000827●●●●●●
235. 130587229 c.841A>G p.I281V missense 0.00000827●●●●●●
236. 130580509 c.1576G>A p.G526S missense 0.00000827●●●●●●
237. 130588873 c.439C>T p.L147F missense 0.00000827●●●●●●
238. 130580502 c.1583C>G p.P528R missense 0.00000827●●●●●●
239. 130592055 c.271T>A p.W91R missense 0.00000827●●●●●●
240. 130580512 c.1573G>A p.E525K missense 0.00000827●●●●●●
241. 130580475 c.1610A>T p.Y537F missense 0.00000826●●●●●●
242. 130592103 c.223C>A p.P75T missense 0.00000826●●●●●●
243. 130592112 c.220-6C>T splice site 0.00000826●●●●●●
244. 130592091 c.235G>A p.E79K missense 0.00000826●●●●●●
245. 130580466 c.1619C>G p.P540R missense 0.00000826●●●●●●
246. 130592115 c.220-9G>A splice site 0.00000826●●●●●●
247. 130605519 c.73G>A p.A25T missense 0.00000826●●●●●●
248. 130605373 c.219G>T splice site 0.00000826●●●●●●
249. 130592102 c.224C>T p.P75L missense 0.00000826●●●●●●
250. 130592057 c.269C>T p.T90I missense 0.00000826●●●●●●
251. 130580467 c.1618C>T p.P540S missense 0.00000826●●●●●●
252. 130592109 c.220-3delC splice site 0.00000826●●●●●●
253. 130580430 c.1655C>A p.A552D missense 0.00000826●●●●●●
254. 130605373 c.219G>A splice site 0.00000826●●●●●●
255. 130588812 c.500G>T p.S167I missense 0.00000826●●●●●●
256. 130592073 c.253T>A p.S85T missense 0.00000826●●●●●●
257. 130605527 c.68-3C>T splice site 0.00000826●●●●●●
258. 130580470 c.1615G>A p.V539I missense 0.00000826●●●●●●
259. 130580493 c.1592G>A p.S531N missense 0.00000826●●●●●●
260. 130580464 c.1621A>G p.I541V missense 0.00000826●●●●●●
261. 130605513 c.79A>G p.T27A missense 0.00000825●●●●●●
262. 130582274 c.1177A>G p.S393G missense 0.00000825●●●●●●
263. 130605393 c.199C>T p.L67F missense 0.00000825●●●●●●
264. 130605413 c.179C>T p.A60V missense 0.00000825●●●●●●
265. 130582276 c.1175C>A p.P392H missense 0.00000825●●●●●●
266. 130605485 c.107G>A p.G36D missense 0.00000825●●●●●●
267. 130582235 c.1216C>G p.R406G missense 0.00000824●●●●●●
268. 130586617 c.1100C>G p.A367G missense 0.00000824●●●●●●
269. 130581086 c.1337A>G p.D446G missense 0.00000824●●●●●●
270. 130586621 c.1096G>A p.D366N missense 0.00000824●●●●●●
271. 130605473 c.119G>A p.G40D missense 0.00000824●●●●●●
272. 130582178 c.1272+1G>T essential splice site 0.00000824●●●●●●
273. 130582235 c.1216C>T p.R406C missense 0.00000824●●●●●●
274. 130582213 c.1238G>A p.G413D missense 0.00000824●●●●●●
275. 130581096 c.1327C>G p.L443V missense 0.00000824●●●●●●
276. 130582176 c.1272+3A>G splice site 0.00000824●●●●●●
277. 130582228 c.1223C>T p.A408V missense 0.00000824●●●●●●
278. 130581106 c.1317G>T p.K439N missense 0.00000824●●●●●●
279. 130581033 c.1390T>C p.S464P missense 0.00000824●●●●●●
280. 130605439 c.153G>C p.K51N missense 0.00000824●●●●●●
281. 130582188 c.1263C>G p.I421M missense 0.00000824●●●●●●
282. 130581110 c.1313A>G p.K438R missense 0.00000824●●●●●●
283. 130586623 c.1094A>G p.D365G missense 0.00000824●●●●●●
284. 130586611 c.1106C>T p.T369I 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.