HSP90AA1 variants in ExAC

HSP90AA1 gene summary
HSP90AA1 variants in

The table below lists the HSP90AA1 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. 102549873 c.1486+10C>T splice site 0.06538036●●●●●●
2. 102551260 c.739_744delAAAGAA p.Lys247_Glu248delinsdel inframe 0.00516750●●●●●●
3. 102548441 c.2089+7C>A splice site 0.00389289●●●●●●
4. 102551278 c.721_723delAAA p.Lys241del inframe 0.00325662●●●●●●
5. 102550121 c.1338+9A>G splice site 0.00155888●●●●●●
6. 102551163 c.836A>T p.K279M missense 0.00139480●●●●●●
7. 102550733 c.1147+3A>G splice site 0.00128643●●●●●●
8. 102551261 c.738_739insAAAGAA p.Lys247_Glu248dup inframe 0.00128297●●●●●●
9. 102551197 c.802_804delGAA p.E268del1 inframe 0.00070857●●●●●●
10. 102550172 c.1296G>T p.E432D missense 0.00062365●●●●●●
11. 102551262 c.737A>G p.E246G missense 0.00061975●●●●●●
12. 102552359 c.265C>T p.L89F missense 0.00021418●●●●●●
13. 102551244 c.755C>T p.S252L missense 0.00018841●●●●●●
14. 102551255 c.744_746delAGA p.Glu249del inframe 0.00016962●●●●●●
15. 102551777 c.530-9C>T splice site 0.00016195●●●●●●
16. 102551166 c.833_835delAGA p.Lys279del inframe 0.00015913●●●●●●
17. 102551166 c.833_838delAGAAGA p.K278_I280delinsI inframe 0.00015913●●●●●●
18. 102551272 c.727_729delGAA p.Glu244del inframe 0.00015881●●●●●●
19. 102551777 c.530-9C>G splice site 0.00014491●●●●●●
20. 102551169 c.830A>G p.K277R missense 0.00012743●●●●●●
21. 102549561 c.1565T>C p.I522T missense 0.00012355●●●●●●
22. 102551272 c.727_732delGAAGAA p.Glu243_Glu244del inframe 0.00012352●●●●●●
23. 102551191 c.808_810delAAG p.Lys270del inframe 0.00011304●●●●●●
24. 102552684 c.32C>T p.P11L missense 0.00009893●●●●●●
25. 102551778 c.530-10_530-8delTCT splice site 0.00008469●●●●●●
26. 102549644 c.1487-5C>A splice site 0.00007417●●●●●●
27. 102551167 c.832_833insAGA p.Lys279dup inframe 0.00005863●●●●●●
28. 102548078 c.2170G>A p.D724N missense 0.00005766●●●●●●
29. 102549435 c.1691A>G p.K564R missense 0.00004984●●●●●●
30. 102551722 c.576A>C p.E192D missense 0.00004955●●●●●●
31. 102550038 c.1339-8T>C splice site 0.00004951●●●●●●
32. 102550038 c.1339-8dupT splice site 0.00004950●●●●●●
33. 102552669 c.47_49dupAGG p.Glu16dup inframe 0.00004946●●●●●●
34. 102551254 c.745G>A p.E249K missense 0.00004455●●●●●●
35. 102548481 c.2056A>G p.N686D missense 0.00004151●●●●●●
36. 102549897 c.1472T>C p.I491T missense 0.00004123●●●●●●
37. 102552399 c.225G>C p.E75D missense 0.00004123●●●●●●
38. 102552669 c.47_49delAGG p.Glu16del inframe 0.00004121●●●●●●
39. 102551260 c.739_741delAAA p.Lys247del inframe 0.00003596●●●●●●
40. 102551259 c.740A>G p.K247R missense 0.00003586●●●●●●
41. 102551777 c.530-9_530-7delCTC splice site 0.00003371●●●●●●
42. 102551738 c.560T>G p.I187S missense 0.00003302●●●●●●
43. 102549900 c.1469A>G p.H490R missense 0.00003298●●●●●●
44. 102552170 c.454A>G p.T152A missense 0.00003296●●●●●●
45. 102549589 c.1537A>G p.K513E missense 0.00003295●●●●●●
46. 102552376 c.248A>G p.N83S missense 0.00003295●●●●●●
47. 102551222 c.777A>C p.E259D missense 0.00002675●●●●●●
48. 102551214 c.785G>T p.G262V missense 0.00002671●●●●●●
49. 102551278 c.721_726delAAAGAA p.Lys241_Glu242del inframe 0.00002622●●●●●●
50. 102551166 c.833_838dupAGAAGA p.Lys278_Lys279dup inframe 0.00002513●●●●●●
51. 102551760 c.538A>G p.M180V missense 0.00002482●●●●●●
52. 102551696 c.602G>A p.R201Q missense 0.00002481●●●●●●
53. 102552685 c.31C>T p.P11S missense 0.00002473●●●●●●
54. 102548078 c.2170_2172delGAC p.Asp724del inframe 0.00002471●●●●●●
55. 102548441 c.2089+7C>G splice site 0.00001849●●●●●●
56. 102551244 c.755C>G p.S252W missense 0.00001794●●●●●●
57. 102551218 c.781G>A p.V261I missense 0.00001782●●●●●●
58. 102551263 c.736G>A p.E246K missense 0.00001774●●●●●●
59. 102551265 c.734A>G p.K245R missense 0.00001764●●●●●●
60. 102548448 c.2089G>A p.G697S missense 0.00001762●●●●●●
61. 102551204 c.795_797delGGA p.Glu268del inframe 0.00001762●●●●●●
62. 102551185 c.814G>A p.G272S missense 0.00001735●●●●●●
63. 102548777 c.1760T>C p.V587A missense 0.00001721●●●●●●
64. 102551166 c.833A>G p.K278R missense 0.00001700●●●●●●
65. 102551169 c.830A>C p.K277T missense 0.00001699●●●●●●
66. 102551775 c.530-7C>T splice site 0.00001694●●●●●●
67. 102551290 c.709G>A p.E237K missense 0.00001687●●●●●●
68. 102551344 c.664-9_664-7delCTT splice site 0.00001674●●●●●●
69. 102551333 c.666G>A splice site 0.00001673●●●●●●
70. 102551317 c.682_684delAAA p.Lys228del inframe 0.00001669●●●●●●
71. 102550127 c.1338+3T>C splice site 0.00001666●●●●●●
72. 102550262 c.1206G>A p.M402I missense 0.00001663●●●●●●
73. 102550185 c.1283C>T p.A428V missense 0.00001663●●●●●●
74. 102551628 c.663+7T>G splice site 0.00001661●●●●●●
75. 102551632 c.663+3A>G splice site 0.00001661●●●●●●
76. 102549415 c.1711C>T p.L571F missense 0.00001658●●●●●●
77. 102552543 c.162+11T>C splice site 0.00001657●●●●●●
78. 102552547 c.162+7C>T splice site 0.00001656●●●●●●
79. 102551763 c.535C>T p.P179S missense 0.00001656●●●●●●
80. 102549879 c.1486+4dupA splice site 0.00001651●●●●●●
81. 102551753 c.545G>A p.R182H missense 0.00001651●●●●●●
82. 102550038 c.1339-8T>G splice site 0.00001650●●●●●●
83. 0 c.1-4C>T splice site 0.00001650●●●●●●
84. 102550819 c.1064G>A p.R355K missense 0.00001649●●●●●●
85. 102552689 c.27C>G p.D9E missense 0.00001649●●●●●●
86. 102551015 c.981+3G>C splice site 0.00001648●●●●●●
87. 102552361 c.263C>T p.T88I missense 0.00001648●●●●●●
88. 102549987 c.1382A>G p.E461G missense 0.00001648●●●●●●
89. 102548528 c.2009C>T p.A670V missense 0.00001648●●●●●●
90. 102551046 c.953A>G p.N318S missense 0.00001647●●●●●●
91. 102548582 c.1955C>T p.A652V missense 0.00001647●●●●●●
92. 102551275 c.724_738dupGAAGAAGAAAAAGAA p.Glu242_Glu246dup inframe 0.00000895●●●●●●
93. 102551250 c.749_750delAA p.Lys250ArgfsTer7 frameshift 0.00000894●●●●●●
94. 102551251 c.748A>G p.K250E missense 0.00000892●●●●●●
95. 102551266 c.733A>G p.K245E missense 0.00000882●●●●●●
96. 102548786 c.1756-5delT splice site 0.00000881●●●●●●
97. 102550327 c.1148-7T>C splice site 0.00000875●●●●●●
98. 102551191 c.808A>G p.K270E missense 0.00000874●●●●●●
99. 102551278 c.721_724delAAAG p.Glu242LysfsTer74 frameshift 0.00000874●●●●●●
100. 102551190 c.809A>G p.K270R missense 0.00000873●●●●●●
101. 102551278 c.721A>G p.K241E missense 0.00000867●●●●●●
102. 102551278 c.721A>C p.K241Q missense 0.00000867●●●●●●
103. 102551184 c.815G>T p.G272V missense 0.00000866●●●●●●
104. 102548778 c.1759G>C p.V587L missense 0.00000860●●●●●●
105. 102550319 c.1149C>T p.N383N splice site 0.00000860●●●●●●
106. 102551182 c.817_825delGACAAGAAG p.Asp273_Lys275del inframe 0.00000853●●●●●●
107. 102548459 c.2078A>G p.K693R missense 0.00000849●●●●●●
108. 102551774 c.530-6T>C splice site 0.00000843●●●●●●
109. 102551341 c.664-6T>G splice site 0.00000837●●●●●●
110. 102551300 c.699T>G p.D233E missense 0.00000837●●●●●●
111. 102551338 c.664-3A>G splice site 0.00000837●●●●●●
112. 102548471 c.2066A>C p.Y689S missense 0.00000836●●●●●●
113. 102551332 c.667G>A p.E223K missense 0.00000836●●●●●●
114. 102551323 c.676C>T p.R226C missense 0.00000835●●●●●●
115. 102551323 c.676_677insTC p.Arg226LeufsTer6 frameshift 0.00000835●●●●●●
116. 102551313 c.686A>T p.E229V missense 0.00000835●●●●●●
117. 102550297 c.1171T>G p.S391A missense 0.00000835●●●●●●
118. 102551322 c.677G>A p.R226H missense 0.00000835●●●●●●
119. 102551310 c.689T>G p.V230G missense 0.00000835●●●●●●
120. 102550126 c.1338+4G>C splice site 0.00000833●●●●●●
121. 102550143 c.1325C>G p.S442C missense 0.00000832●●●●●●
122. 102550170 c.1298A>G p.N433S missense 0.00000832●●●●●●
123. 102550143 c.1325C>T p.S442F missense 0.00000832●●●●●●
124. 102550133 c.1335A>G p.I445M missense 0.00000832●●●●●●
125. 102550149 c.1319A>C p.Q440P missense 0.00000832●●●●●●
126. 102550182 c.1286A>G p.E429G missense 0.00000832●●●●●●
127. 102550135 c.1333A>T p.I445L missense 0.00000832●●●●●●
128. 102550150 c.1318C>T p.Q440X nonsense 0.00000832●●●●●●
129. 102550276 c.1192A>G p.I398V missense 0.00000832●●●●●●
130. 102550233 c.1235T>C p.I412T missense 0.00000831●●●●●●
131. 102550168 c.1300T>C p.Y434H missense 0.00000831●●●●●●
132. 102549429 c.1697C>A p.T566K missense 0.00000831●●●●●●
133. 102550245 c.1223T>C p.I408T missense 0.00000831●●●●●●
134. 102550204 c.1264G>C p.E422Q missense 0.00000831●●●●●●
135. 102550232 c.1236C>G p.I412M missense 0.00000831●●●●●●
136. 102549436 c.1690A>G p.K564E missense 0.00000831●●●●●●
137. 102549450 c.1676_1679delAGAA p.Lys559SerfsTer16 frameshift 0.00000830●●●●●●
138. 102549448 c.1678A>G p.K560E missense 0.00000830●●●●●●
139. 102551646 c.652A>C p.I218L missense 0.00000829●●●●●●
140. 102549416 c.1710C>A p.N570K missense 0.00000829●●●●●●
141. 102552447 c.177C>G p.I59M missense 0.00000829●●●●●●
142. 102552449 c.175A>G p.I59V missense 0.00000829●●●●●●
143. 102551666 c.632C>T p.S211F missense 0.00000828●●●●●●
144. 102552551 c.162+3A>G splice site 0.00000828●●●●●●
145. 102552089 c.529+6C>T splice site 0.00000828●●●●●●
146. 102550908 c.982-7A>G splice site 0.00000827●●●●●●
147. 102550909 c.982-8T>C splice site 0.00000827●●●●●●
148. 102552425 c.199C>T p.P67S missense 0.00000827●●●●●●
149. 102552112 c.512C>T p.T171I missense 0.00000827●●●●●●
150. 102551693 c.605G>A p.R202K missense 0.00000827●●●●●●
151. 102551699 c.599A>C p.E200A missense 0.00000827●●●●●●
152. 102552428 c.196G>A p.D66N missense 0.00000827●●●●●●
153. 102549403 c.1723A>G p.M575V missense 0.00000827●●●●●●
154. 102551696 c.602G>T p.R201L missense 0.00000827●●●●●●
155. 102552430 c.194C>T p.T65I missense 0.00000827●●●●●●
156. 102552106 c.518G>A p.R173K missense 0.00000827●●●●●●
157. 102551762 c.536C>G p.P179R missense 0.00000827●●●●●●
158. 102550863 c.1020_1021insT p.Leu341SerfsTer10 frameshift 0.00000826●●●●●●
159. 102552418 c.206A>G p.K69R missense 0.00000826●●●●●●
160. 102551722 c.576_578delAGA p.Glu192del inframe 0.00000826●●●●●●
161. 102549392 c.1734A>G p.I578M missense 0.00000826●●●●●●
162. 102552412 c.212A>C p.D71A missense 0.00000826●●●●●●
163. 102552130 c.494C>G p.S165X nonsense 0.00000826●●●●●●
164. 102551737 c.561C>G p.I187M missense 0.00000826●●●●●●
165. 102550862 c.1021C>G p.L341V missense 0.00000826●●●●●●
166. 0 c.1-8C>G splice site 0.00000825●●●●●●
167. 102550022 c.1347A>G p.I449M missense 0.00000825●●●●●●
168. 102552693 c.23A>G p.Q8R missense 0.00000825●●●●●●
169. 102552722 c.1-7G>C splice site 0.00000825●●●●●●
170. 102552142 c.482C>T p.A161V missense 0.00000825●●●●●●
171. 102552148 c.476A>C p.Q159P missense 0.00000825●●●●●●
172. 102552703 c.13A>T p.T5S missense 0.00000825●●●●●●
173. 102549880 c.1486+3A>G splice site 0.00000825●●●●●●
174. 102550846 c.1037G>A p.R346H missense 0.00000825●●●●●●
175. 102549892 c.1477T>C p.Y493H missense 0.00000825●●●●●●
176. 102552700 c.16C>G p.Q6E missense 0.00000825●●●●●●
177. 102552706 c.10G>A p.E4K missense 0.00000825●●●●●●
178. 102550849 c.1034G>A p.R345Q missense 0.00000825●●●●●●
179. 102549901 c.1468C>T p.H490Y missense 0.00000825●●●●●●
180. 102549894 c.1475A>G p.Y492C missense 0.00000825●●●●●●
181. 102550825 c.1058A>G p.E353G missense 0.00000825●●●●●●
182. 102552713 c.3G>A p.Met1? missense 0.00000825●●●●●●
183. 102552702 c.14C>G p.T5S missense 0.00000825●●●●●●
184. 102552717 c.1-2A>G essential splice site 0.00000825●●●●●●
185. 102550837 c.1046T>G p.F349C missense 0.00000825●●●●●●
186. 102551139 c.860A>G p.Q287R missense 0.00000824●●●●●●
187. 102551078 c.921G>C p.E307D missense 0.00000824●●●●●●
188. 102549912 c.1457A>G p.E486G missense 0.00000824●●●●●●
189. 102548613 c.1924A>G p.I642V missense 0.00000824●●●●●●
190. 102549505 c.1621T>G p.L541V missense 0.00000824●●●●●●
191. 102551076 c.923A>T p.E308V missense 0.00000824●●●●●●
192. 102549644 c.1487-5C>T splice site 0.00000824●●●●●●
193. 102549567 c.1559A>G p.Y520C missense 0.00000824●●●●●●
194. 102552362 c.262A>G p.T88A missense 0.00000824●●●●●●
195. 102550829 c.1054T>A p.F352I missense 0.00000824●●●●●●
196. 102550790 c.1093G>A p.V365I missense 0.00000824●●●●●●
197. 102548532 c.2005A>C p.T669P missense 0.00000824●●●●●●
198. 102549984 c.1385T>C p.L462P missense 0.00000824●●●●●●
199. 102549504 c.1622T>C p.L541S missense 0.00000824●●●●●●
200. 102548161 c.2090-3C>T splice site 0.00000824●●●●●●
201. 102552355 c.269C>T p.T90I missense 0.00000824●●●●●●
202. 102552673 c.43G>A p.E15K missense 0.00000824●●●●●●
203. 102549628 c.1498G>A p.D500N missense 0.00000824●●●●●●
204. 102549366 c.1755+5G>C splice site 0.00000824●●●●●●
205. 102552395 c.229C>T p.H77Y missense 0.00000824●●●●●●
206. 102552377 c.247A>G p.N83D missense 0.00000824●●●●●●
207. 102551027 c.972G>T p.L324F missense 0.00000824●●●●●●
208. 102550755 c.1128G>T p.E376D missense 0.00000824●●●●●●
209. 102548096 c.2152C>T p.P718S missense 0.00000824●●●●●●
210. 102551083 c.916A>C p.N306H missense 0.00000824●●●●●●
211. 102551077 c.922_924delGAG p.Glu308del inframe 0.00000824●●●●●●
212. 102552685 c.31C>G p.P11A missense 0.00000824●●●●●●
213. 102549913 c.1456G>A p.E486K missense 0.00000824●●●●●●
214. 102550819 c.1064_1065delGA p.R355Kfs*18 frameshift 0.00000824●●●●●●
215. 102548638 c.1899C>G p.H633Q missense 0.00000824●●●●●●
216. 102549645 c.1487-6C>T splice site 0.00000824●●●●●●
217. 102549509 c.1617G>T p.K539N missense 0.00000824●●●●●●
218. 102548545 c.1992C>G p.I664M missense 0.00000824●●●●●●
219. 102552367 c.257A>G p.D86G missense 0.00000824●●●●●●
220. 102548606 c.1931A>C p.E644A missense 0.00000824●●●●●●
221. 102549930 c.1439A>G p.Y480C missense 0.00000824●●●●●●
222. 102549564 c.1562T>C p.M521T missense 0.00000824●●●●●●
223. 102552680 c.36G>A p.M12I missense 0.00000824●●●●●●
224. 102549638 c.1488T>C splice site 0.00000824●●●●●●
225. 102551082 c.917A>T p.N306I missense 0.00000824●●●●●●
226. 102552379 c.245C>T p.P82L missense 0.00000824●●●●●●
227. 102551082 c.917A>C p.N306T missense 0.00000824●●●●●●
228. 102552158 c.466G>A p.D156N missense 0.00000824●●●●●●
229. 102550756 c.1127A>G p.E376G missense 0.00000824●●●●●●
230. 102549367 c.1755+4T>C splice site 0.00000824●●●●●●
231. 102549916 c.1453A>C p.K485Q missense 0.00000824●●●●●●
232. 102549645 c.1487-6_1487-5insA splice site 0.00000824●●●●●●
233. 102549586 c.1540C>T p.H514Y missense 0.00000824●●●●●●
234. 102552380 c.244C>T p.P82S missense 0.00000824●●●●●●
235. 102552373 c.251A>G p.K84R missense 0.00000824●●●●●●
236. 102548637 c.1900C>G p.L634V missense 0.00000824●●●●●●
237. 102548068 c.2180G>A p.R727H missense 0.00000824●●●●●●
238. 102548119 c.2129C>G p.A710G missense 0.00000824●●●●●●
239. 102550815 c.1068_1071delGAAA p.Lys357ArgfsTer20 frameshift 0.00000824●●●●●●
240. 102550011 c.1358C>T p.S453F missense 0.00000824●●●●●●
241. 102549969 c.1400C>T p.T467I missense 0.00000824●●●●●●
242. 102552681 c.35T>C p.M12T missense 0.00000824●●●●●●
243. 102551010 c.981+8A>G splice site 0.00000824●●●●●●
244. 102551063 c.936C>A p.F312L missense 0.00000824●●●●●●
245. 102550771 c.1112T>G p.M371R missense 0.00000824●●●●●●
246. 102549940 c.1429C>G p.L477V missense 0.00000824●●●●●●
247. 102549990 c.1379C>T p.S460L missense 0.00000824●●●●●●
248. 102552350 c.274G>A p.V92M missense 0.00000824●●●●●●
249. 102552612 c.104A>G p.N35S missense 0.00000824●●●●●●
250. 102549612 c.1514C>T p.S505L missense 0.00000824●●●●●●
251. 102552382 c.242T>C p.I81T missense 0.00000824●●●●●●
252. 102548166 c.2090-8G>A splice site 0.00000824●●●●●●
253. 102548583 c.1954G>A p.A652T missense 0.00000824●●●●●●
254. 102549365 c.1755+6T>G splice site 0.00000824●●●●●●
255. 102548075 c.2173A>C p.T725P 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.