HSP90AA1 missense variants in ExAC

HSP90AA1 gene summary
HSP90AA1 variants in

The table below lists the HSP90AA1 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. 102551163 c.836A>T p.K279M missense 0.00139480●●●●●●
2. 102550172 c.1296G>T p.E432D missense 0.00062365●●●●●●
3. 102551262 c.737A>G p.E246G missense 0.00061975●●●●●●
4. 102552359 c.265C>T p.L89F missense 0.00021418●●●●●●
5. 102551244 c.755C>T p.S252L missense 0.00018841●●●●●●
6. 102551169 c.830A>G p.K277R missense 0.00012743●●●●●●
7. 102549561 c.1565T>C p.I522T missense 0.00012355●●●●●●
8. 102552684 c.32C>T p.P11L missense 0.00009893●●●●●●
9. 102548078 c.2170G>A p.D724N missense 0.00005766●●●●●●
10. 102549435 c.1691A>G p.K564R missense 0.00004984●●●●●●
11. 102551722 c.576A>C p.E192D missense 0.00004955●●●●●●
12. 102551254 c.745G>A p.E249K missense 0.00004455●●●●●●
13. 102548481 c.2056A>G p.N686D missense 0.00004151●●●●●●
14. 102552399 c.225G>C p.E75D missense 0.00004123●●●●●●
15. 102549897 c.1472T>C p.I491T missense 0.00004123●●●●●●
16. 102551259 c.740A>G p.K247R missense 0.00003586●●●●●●
17. 102551738 c.560T>G p.I187S missense 0.00003302●●●●●●
18. 102549900 c.1469A>G p.H490R missense 0.00003298●●●●●●
19. 102552170 c.454A>G p.T152A missense 0.00003296●●●●●●
20. 102552376 c.248A>G p.N83S missense 0.00003295●●●●●●
21. 102549589 c.1537A>G p.K513E missense 0.00003295●●●●●●
22. 102551222 c.777A>C p.E259D missense 0.00002675●●●●●●
23. 102551214 c.785G>T p.G262V missense 0.00002671●●●●●●
24. 102551760 c.538A>G p.M180V missense 0.00002482●●●●●●
25. 102551696 c.602G>A p.R201Q missense 0.00002481●●●●●●
26. 102552685 c.31C>T p.P11S missense 0.00002473●●●●●●
27. 102551244 c.755C>G p.S252W missense 0.00001794●●●●●●
28. 102551218 c.781G>A p.V261I missense 0.00001782●●●●●●
29. 102551263 c.736G>A p.E246K missense 0.00001774●●●●●●
30. 102551265 c.734A>G p.K245R missense 0.00001764●●●●●●
31. 102548448 c.2089G>A p.G697S missense 0.00001762●●●●●●
32. 102551185 c.814G>A p.G272S missense 0.00001735●●●●●●
33. 102548777 c.1760T>C p.V587A missense 0.00001721●●●●●●
34. 102551166 c.833A>G p.K278R missense 0.00001700●●●●●●
35. 102551169 c.830A>C p.K277T missense 0.00001699●●●●●●
36. 102551290 c.709G>A p.E237K missense 0.00001687●●●●●●
37. 102550185 c.1283C>T p.A428V missense 0.00001663●●●●●●
38. 102550262 c.1206G>A p.M402I missense 0.00001663●●●●●●
39. 102549415 c.1711C>T p.L571F missense 0.00001658●●●●●●
40. 102551763 c.535C>T p.P179S missense 0.00001656●●●●●●
41. 102551753 c.545G>A p.R182H missense 0.00001651●●●●●●
42. 102552689 c.27C>G p.D9E missense 0.00001649●●●●●●
43. 102550819 c.1064G>A p.R355K missense 0.00001649●●●●●●
44. 102548528 c.2009C>T p.A670V missense 0.00001648●●●●●●
45. 102552361 c.263C>T p.T88I missense 0.00001648●●●●●●
46. 102549987 c.1382A>G p.E461G missense 0.00001648●●●●●●
47. 102548582 c.1955C>T p.A652V missense 0.00001647●●●●●●
48. 102551046 c.953A>G p.N318S missense 0.00001647●●●●●●
49. 102551251 c.748A>G p.K250E missense 0.00000892●●●●●●
50. 102551266 c.733A>G p.K245E missense 0.00000882●●●●●●
51. 102551191 c.808A>G p.K270E missense 0.00000874●●●●●●
52. 102551190 c.809A>G p.K270R missense 0.00000873●●●●●●
53. 102551278 c.721A>G p.K241E missense 0.00000867●●●●●●
54. 102551278 c.721A>C p.K241Q missense 0.00000867●●●●●●
55. 102551184 c.815G>T p.G272V missense 0.00000866●●●●●●
56. 102548778 c.1759G>C p.V587L missense 0.00000860●●●●●●
57. 102548459 c.2078A>G p.K693R missense 0.00000849●●●●●●
58. 102551300 c.699T>G p.D233E missense 0.00000837●●●●●●
59. 102548471 c.2066A>C p.Y689S missense 0.00000836●●●●●●
60. 102551332 c.667G>A p.E223K missense 0.00000836●●●●●●
61. 102551313 c.686A>T p.E229V missense 0.00000835●●●●●●
62. 102551322 c.677G>A p.R226H missense 0.00000835●●●●●●
63. 102550297 c.1171T>G p.S391A missense 0.00000835●●●●●●
64. 102551323 c.676C>T p.R226C missense 0.00000835●●●●●●
65. 102551310 c.689T>G p.V230G missense 0.00000835●●●●●●
66. 102550182 c.1286A>G p.E429G missense 0.00000832●●●●●●
67. 102550170 c.1298A>G p.N433S missense 0.00000832●●●●●●
68. 102550143 c.1325C>G p.S442C missense 0.00000832●●●●●●
69. 102550143 c.1325C>T p.S442F missense 0.00000832●●●●●●
70. 102550133 c.1335A>G p.I445M missense 0.00000832●●●●●●
71. 102550149 c.1319A>C p.Q440P missense 0.00000832●●●●●●
72. 102550276 c.1192A>G p.I398V missense 0.00000832●●●●●●
73. 102550135 c.1333A>T p.I445L missense 0.00000832●●●●●●
74. 102549436 c.1690A>G p.K564E missense 0.00000831●●●●●●
75. 102550233 c.1235T>C p.I412T missense 0.00000831●●●●●●
76. 102550168 c.1300T>C p.Y434H missense 0.00000831●●●●●●
77. 102550245 c.1223T>C p.I408T missense 0.00000831●●●●●●
78. 102550204 c.1264G>C p.E422Q missense 0.00000831●●●●●●
79. 102549429 c.1697C>A p.T566K missense 0.00000831●●●●●●
80. 102550232 c.1236C>G p.I412M missense 0.00000831●●●●●●
81. 102549448 c.1678A>G p.K560E missense 0.00000830●●●●●●
82. 102549416 c.1710C>A p.N570K missense 0.00000829●●●●●●
83. 102552449 c.175A>G p.I59V missense 0.00000829●●●●●●
84. 102552447 c.177C>G p.I59M missense 0.00000829●●●●●●
85. 102551646 c.652A>C p.I218L missense 0.00000829●●●●●●
86. 102551666 c.632C>T p.S211F missense 0.00000828●●●●●●
87. 102552425 c.199C>T p.P67S missense 0.00000827●●●●●●
88. 102549403 c.1723A>G p.M575V missense 0.00000827●●●●●●
89. 102552428 c.196G>A p.D66N missense 0.00000827●●●●●●
90. 102552112 c.512C>T p.T171I missense 0.00000827●●●●●●
91. 102551693 c.605G>A p.R202K missense 0.00000827●●●●●●
92. 102551699 c.599A>C p.E200A missense 0.00000827●●●●●●
93. 102552430 c.194C>T p.T65I missense 0.00000827●●●●●●
94. 102551696 c.602G>T p.R201L missense 0.00000827●●●●●●
95. 102552106 c.518G>A p.R173K missense 0.00000827●●●●●●
96. 102551762 c.536C>G p.P179R missense 0.00000827●●●●●●
97. 102552412 c.212A>C p.D71A missense 0.00000826●●●●●●
98. 102549392 c.1734A>G p.I578M missense 0.00000826●●●●●●
99. 102552418 c.206A>G p.K69R missense 0.00000826●●●●●●
100. 102551737 c.561C>G p.I187M missense 0.00000826●●●●●●
101. 102550862 c.1021C>G p.L341V missense 0.00000826●●●●●●
102. 102552703 c.13A>T p.T5S missense 0.00000825●●●●●●
103. 102549901 c.1468C>T p.H490Y missense 0.00000825●●●●●●
104. 102550837 c.1046T>G p.F349C missense 0.00000825●●●●●●
105. 102549894 c.1475A>G p.Y492C missense 0.00000825●●●●●●
106. 102552706 c.10G>A p.E4K missense 0.00000825●●●●●●
107. 102552142 c.482C>T p.A161V missense 0.00000825●●●●●●
108. 102550846 c.1037G>A p.R346H missense 0.00000825●●●●●●
109. 102550022 c.1347A>G p.I449M missense 0.00000825●●●●●●
110. 102552713 c.3G>A p.Met1? missense 0.00000825●●●●●●
111. 102552702 c.14C>G p.T5S missense 0.00000825●●●●●●
112. 102550849 c.1034G>A p.R345Q missense 0.00000825●●●●●●
113. 102552700 c.16C>G p.Q6E missense 0.00000825●●●●●●
114. 102549892 c.1477T>C p.Y493H missense 0.00000825●●●●●●
115. 102550825 c.1058A>G p.E353G missense 0.00000825●●●●●●
116. 102552148 c.476A>C p.Q159P missense 0.00000825●●●●●●
117. 102552693 c.23A>G p.Q8R missense 0.00000825●●●●●●
118. 102552685 c.31C>G p.P11A missense 0.00000824●●●●●●
119. 102550790 c.1093G>A p.V365I missense 0.00000824●●●●●●
120. 102552367 c.257A>G p.D86G missense 0.00000824●●●●●●
121. 102550829 c.1054T>A p.F352I missense 0.00000824●●●●●●
122. 102551139 c.860A>G p.Q287R missense 0.00000824●●●●●●
123. 102550011 c.1358C>T p.S453F missense 0.00000824●●●●●●
124. 102549940 c.1429C>G p.L477V missense 0.00000824●●●●●●
125. 102552350 c.274G>A p.V92M missense 0.00000824●●●●●●
126. 102549612 c.1514C>T p.S505L missense 0.00000824●●●●●●
127. 102548613 c.1924A>G p.I642V missense 0.00000824●●●●●●
128. 102552680 c.36G>A p.M12I missense 0.00000824●●●●●●
129. 102551076 c.923A>T p.E308V missense 0.00000824●●●●●●
130. 102552379 c.245C>T p.P82L missense 0.00000824●●●●●●
131. 102551027 c.972G>T p.L324F missense 0.00000824●●●●●●
132. 102551083 c.916A>C p.N306H missense 0.00000824●●●●●●
133. 102552158 c.466G>A p.D156N missense 0.00000824●●●●●●
134. 102550755 c.1128G>T p.E376D missense 0.00000824●●●●●●
135. 102549504 c.1622T>C p.L541S missense 0.00000824●●●●●●
136. 102549912 c.1457A>G p.E486G missense 0.00000824●●●●●●
137. 102551082 c.917A>C p.N306T missense 0.00000824●●●●●●
138. 102549505 c.1621T>G p.L541V missense 0.00000824●●●●●●
139. 102548583 c.1954G>A p.A652T missense 0.00000824●●●●●●
140. 102548532 c.2005A>C p.T669P missense 0.00000824●●●●●●
141. 102552373 c.251A>G p.K84R missense 0.00000824●●●●●●
142. 102548075 c.2173A>C p.T725P missense 0.00000824●●●●●●
143. 102549984 c.1385T>C p.L462P missense 0.00000824●●●●●●
144. 102552355 c.269C>T p.T90I missense 0.00000824●●●●●●
145. 102549628 c.1498G>A p.D500N missense 0.00000824●●●●●●
146. 102549567 c.1559A>G p.Y520C missense 0.00000824●●●●●●
147. 102548638 c.1899C>G p.H633Q missense 0.00000824●●●●●●
148. 102552681 c.35T>C p.M12T missense 0.00000824●●●●●●
149. 102551082 c.917A>T p.N306I missense 0.00000824●●●●●●
150. 102550756 c.1127A>G p.E376G missense 0.00000824●●●●●●
151. 102549930 c.1439A>G p.Y480C missense 0.00000824●●●●●●
152. 102549564 c.1562T>C p.M521T missense 0.00000824●●●●●●
153. 102549913 c.1456G>A p.E486K missense 0.00000824●●●●●●
154. 102552612 c.104A>G p.N35S missense 0.00000824●●●●●●
155. 102549509 c.1617G>T p.K539N missense 0.00000824●●●●●●
156. 102548606 c.1931A>C p.E644A missense 0.00000824●●●●●●
157. 102548545 c.1992C>G p.I664M missense 0.00000824●●●●●●
158. 102552382 c.242T>C p.I81T missense 0.00000824●●●●●●
159. 102548096 c.2152C>T p.P718S missense 0.00000824●●●●●●
160. 102552380 c.244C>T p.P82S missense 0.00000824●●●●●●
161. 102551063 c.936C>A p.F312L missense 0.00000824●●●●●●
162. 102552362 c.262A>G p.T88A missense 0.00000824●●●●●●
163. 102550771 c.1112T>G p.M371R missense 0.00000824●●●●●●
164. 102549969 c.1400C>T p.T467I missense 0.00000824●●●●●●
165. 102549916 c.1453A>C p.K485Q missense 0.00000824●●●●●●
166. 102549990 c.1379C>T p.S460L missense 0.00000824●●●●●●
167. 102552673 c.43G>A p.E15K missense 0.00000824●●●●●●
168. 102549586 c.1540C>T p.H514Y missense 0.00000824●●●●●●
169. 102552395 c.229C>T p.H77Y missense 0.00000824●●●●●●
170. 102552377 c.247A>G p.N83D missense 0.00000824●●●●●●
171. 102548637 c.1900C>G p.L634V missense 0.00000824●●●●●●
172. 102551078 c.921G>C p.E307D missense 0.00000824●●●●●●
173. 102548119 c.2129C>G p.A710G missense 0.00000824●●●●●●
174. 102548068 c.2180G>A p.R727H 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.