HIF1A missense variants in ExAC

HIF1A gene summary
HIF1A variants in

The table below lists the HIF1A 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. 62207557 c.1744C>T p.P582S missense 0.08965551●●●●●●
2. 62207575 c.1762G>A p.A588T missense 0.00974449●●●●●●
3. 62204819 c.1264G>T p.D422Y missense 0.00424731●●●●●●
4. 62204808 c.1253C>T p.T418I missense 0.00383009●●●●●●
5. 62203623 c.1045G>A p.D349N missense 0.00197100●●●●●●
6. 62187212 c.148G>C p.V50L missense 0.00182127●●●●●●
7. 62204978 c.1423G>T p.A475S missense 0.00055288●●●●●●
8. 62207893 c.2080G>A p.A694T missense 0.00043978●●●●●●
9. 62188298 c.298G>A p.V100I missense 0.00018135●●●●●●
10. 62207879 c.2066A>C p.N689T missense 0.00015788●●●●●●
11. 62204853 c.1298A>G p.D433G missense 0.00014309●●●●●●
12. 62207848 c.2035C>G p.Q679E missense 0.00010732●●●●●●
13. 62207873 c.2060G>A p.S687N missense 0.00009124●●●●●●
14. 62207731 c.1918G>C p.A640P missense 0.00009062●●●●●●
15. 62213683 c.2361G>C p.M787I missense 0.00007440●●●●●●
16. 62194352 c.752A>G p.K251R missense 0.00007421●●●●●●
17. 62207708 c.1895T>C p.M632T missense 0.00007414●●●●●●
18. 62187281 c.217C>A p.L73M missense 0.00005801●●●●●●
19. 62204877 c.1322A>G p.E441G missense 0.00004973●●●●●●
20. 62194346 c.746A>C p.D249A missense 0.00004947●●●●●●
21. 62203643 c.1065A>T p.Q355H missense 0.00004944●●●●●●
22. 62207590 c.1777G>A p.A593T missense 0.00004942●●●●●●
23. 62199179 c.817C>T p.R273C missense 0.00004130●●●●●●
24. 62207590 c.1777G>C p.A593P missense 0.00004118●●●●●●
25. 62193454 c.488C>T p.T163I missense 0.00003330●●●●●●
26. 62204871 c.1316C>T p.P439L missense 0.00003322●●●●●●
27. 62188314 c.314A>G p.D105G missense 0.00003297●●●●●●
28. 62213741 c.2419C>A p.Q807K missense 0.00003297●●●●●●
29. 62212436 c.2230C>T p.H744Y missense 0.00003296●●●●●●
30. 62194221 c.621A>C p.Q207H missense 0.00003296●●●●●●
31. 62203827 c.1249G>A p.D417N missense 0.00002638●●●●●●
32. 62205072 c.1517C>T p.T506I missense 0.00002561●●●●●●
33. 62211428 c.2099C>T p.T700I missense 0.00002549●●●●●●
34. 62205062 c.1507G>A p.D503N missense 0.00002541●●●●●●
35. 62207226 c.1540A>G p.N514D missense 0.00002520●●●●●●
36. 62207869 c.2056A>G p.R686G missense 0.00002485●●●●●●
37. 62187147 c.83C>A p.S28Y missense 0.00002479●●●●●●
38. 62207844 c.2031A>G p.I677M missense 0.00002477●●●●●●
39. 62203617 c.1039C>G p.Q347E missense 0.00002476●●●●●●
40. 62188251 c.251T>G p.M84R missense 0.00002475●●●●●●
41. 62207816 c.2003C>T p.S668L missense 0.00002473●●●●●●
42. 62188355 c.355T>C p.Y119H missense 0.00002473●●●●●●
43. 62187203 c.139C>A p.P47T missense 0.00002472●●●●●●
44. 62207537 c.1724G>A p.R575H missense 0.00002472●●●●●●
45. 62203669 c.1091T>C p.V364A missense 0.00002472●●●●●●
46. 62194198 c.598G>A p.V200I missense 0.00002472●●●●●●
47. 62207705 c.1892G>A p.R631H missense 0.00002471●●●●●●
48. 62162547 c.25G>A p.D9N missense 0.00002201●●●●●●
49. 62162529 c.7G>A p.G3S missense 0.00002132●●●●●●
50. 62204812 c.1257A>C p.E419D missense 0.00001767●●●●●●
51. 62188524 c.440T>C p.M147T missense 0.00001715●●●●●●
52. 62187108 c.44C>T p.S15F missense 0.00001703●●●●●●
53. 62193460 c.494G>A p.R165Q missense 0.00001663●●●●●●
54. 62212529 c.2323C>T p.P775S missense 0.00001661●●●●●●
55. 62204892 c.1337T>G p.I446R missense 0.00001655●●●●●●
56. 62213681 c.2359A>G p.M787V missense 0.00001654●●●●●●
57. 62207258 c.1572T>G p.D524E missense 0.00001654●●●●●●
58. 62207266 c.1580T>C p.M527T missense 0.00001653●●●●●●
59. 62204921 c.1366G>A p.A456T missense 0.00001652●●●●●●
60. 62205002 c.1447G>C p.E483Q missense 0.00001651●●●●●●
61. 62203618 c.1040A>G p.Q347R missense 0.00001651●●●●●●
62. 62213688 c.2366A>C p.E789A missense 0.00001651●●●●●●
63. 62204976 c.1421T>C p.V474A missense 0.00001650●●●●●●
64. 62207730 c.1917T>G p.I639M missense 0.00001648●●●●●●
65. 62203691 c.1113G>A p.M371I missense 0.00001648●●●●●●
66. 62207729 c.1916T>G p.I639S missense 0.00001648●●●●●●
67. 62203669 c.1091T>A p.V364D missense 0.00001648●●●●●●
68. 62207608 c.1795G>A p.V599I missense 0.00001647●●●●●●
69. 62204810 c.1255G>C p.E419Q missense 0.00000885●●●●●●
70. 62188532 c.448C>A p.H150N missense 0.00000876●●●●●●
71. 62204827 c.1272A>C p.Q424H missense 0.00000866●●●●●●
72. 62188525 c.441G>A p.M147I missense 0.00000860●●●●●●
73. 62204841 c.1286C>G p.P429R missense 0.00000852●●●●●●
74. 62205069 c.1514G>A p.S505N missense 0.00000851●●●●●●
75. 62187111 c.47A>C p.E16A missense 0.00000847●●●●●●
76. 62207890 c.2077G>A p.V693I missense 0.00000845●●●●●●
77. 62207223 c.1537C>T p.P513S missense 0.00000844●●●●●●
78. 62207343 c.1657C>G p.Q553E missense 0.00000840●●●●●●
79. 62204856 c.1301T>C p.V434A missense 0.00000839●●●●●●
80. 62207227 c.1541A>G p.N514S missense 0.00000839●●●●●●
81. 62205051 c.1496C>G p.P499R missense 0.00000839●●●●●●
82. 62213661 c.2339G>A p.C780Y missense 0.00000838●●●●●●
83. 62193499 c.533G>A p.R178Q missense 0.00000835●●●●●●
84. 62213798 c.2476A>G p.N826D missense 0.00000835●●●●●●
85. 62211440 c.2111A>T p.E704V missense 0.00000834●●●●●●
86. 62207331 c.1645C>T p.P549S missense 0.00000833●●●●●●
87. 62207881 c.2068G>A p.V690M missense 0.00000833●●●●●●
88. 62193452 c.486C>A p.N162K missense 0.00000833●●●●●●
89. 62193454 c.488C>G p.T163R missense 0.00000832●●●●●●
90. 62204867 c.1312T>C p.S438P missense 0.00000832●●●●●●
91. 62193458 c.492G>C p.Q164H missense 0.00000832●●●●●●
92. 62193458 c.492G>T p.Q164H missense 0.00000832●●●●●●
93. 62204870 c.1315C>T p.P439S missense 0.00000831●●●●●●
94. 62203803 c.1225A>G p.I409V missense 0.00000831●●●●●●
95. 62187286 c.222T>A p.D74E missense 0.00000830●●●●●●
96. 62188475 c.391A>C p.S131R missense 0.00000830●●●●●●
97. 62204874 c.1319A>G p.N440S missense 0.00000830●●●●●●
98. 62199141 c.779C>A p.T260N missense 0.00000829●●●●●●
99. 62204876 c.1321G>A p.E441K missense 0.00000829●●●●●●
100. 62207245 c.1559G>A p.C520Y missense 0.00000829●●●●●●
101. 62207247 c.1561T>A p.F521I missense 0.00000829●●●●●●
102. 62199141 c.779C>T p.T260I missense 0.00000829●●●●●●
103. 62207317 c.1631C>G p.T544R missense 0.00000829●●●●●●
104. 62212514 c.2308A>G p.T770A missense 0.00000828●●●●●●
105. 62211530 c.2201T>C p.I734T missense 0.00000828●●●●●●
106. 62204882 c.1327T>G p.L443V missense 0.00000828●●●●●●
107. 62204889 c.1334A>C p.N445T missense 0.00000828●●●●●●
108. 62207253 c.1567G>T p.V523L missense 0.00000828●●●●●●
109. 62199143 c.781G>A p.E261K missense 0.00000828●●●●●●
110. 62211460 c.2131C>A p.L711I missense 0.00000827●●●●●●
111. 62204900 c.1345G>A p.A449T missense 0.00000827●●●●●●
112. 62207259 c.1573A>G p.S525G missense 0.00000827●●●●●●
113. 62205027 c.1472T>C p.M491T missense 0.00000827●●●●●●
114. 62187275 c.211A>C p.K71Q missense 0.00000827●●●●●●
115. 62199218 c.856C>T p.H286Y missense 0.00000827●●●●●●
116. 62211457 c.2128A>G p.I710V missense 0.00000827●●●●●●
117. 62199150 c.788T>C p.M263T missense 0.00000827●●●●●●
118. 62207264 c.1578T>G p.D526E missense 0.00000827●●●●●●
119. 62211458 c.2129T>C p.I710T missense 0.00000827●●●●●●
120. 62199151 c.789G>A p.M263I missense 0.00000827●●●●●●
121. 62211471 c.2142G>T p.Q714H missense 0.00000826●●●●●●
122. 62205017 c.1462T>A p.S488T missense 0.00000826●●●●●●
123. 62204918 c.1363A>T p.T455S missense 0.00000826●●●●●●
124. 62187267 c.203G>A p.R68H missense 0.00000826●●●●●●
125. 62211509 c.2180C>T p.S727L missense 0.00000826●●●●●●
126. 62199182 c.820T>C p.S274P missense 0.00000826●●●●●●
127. 62199180 c.818G>A p.R273H missense 0.00000826●●●●●●
128. 62211473 c.2144A>G p.N715S missense 0.00000826●●●●●●
129. 62211464 c.2135C>G p.A712G missense 0.00000826●●●●●●
130. 62205011 c.1456G>C p.E486Q missense 0.00000826●●●●●●
131. 62204907 c.1352C>T p.S451F missense 0.00000826●●●●●●
132. 62203788 c.1210G>A p.A404T missense 0.00000826●●●●●●
133. 62187149 c.85C>T p.R29W missense 0.00000826●●●●●●
134. 62205011 c.1456G>A p.E486K missense 0.00000826●●●●●●
135. 62211471 c.2142G>C p.Q714H missense 0.00000826●●●●●●
136. 62204910 c.1355C>T p.P452L missense 0.00000826●●●●●●
137. 62187265 c.201G>T p.L67F missense 0.00000826●●●●●●
138. 62211502 c.2173G>T p.D725Y missense 0.00000826●●●●●●
139. 62207835 c.2022A>T p.K674N missense 0.00000825●●●●●●
140. 62187251 c.187A>G p.T63A missense 0.00000825●●●●●●
141. 62212488 c.2282G>A p.S761N missense 0.00000825●●●●●●
142. 62188252 c.252G>C p.M84I missense 0.00000825●●●●●●
143. 62204949 c.1394G>A p.S465N missense 0.00000825●●●●●●
144. 62207824 c.2011A>G p.R671G missense 0.00000825●●●●●●
145. 62188256 c.256G>A p.A86T missense 0.00000825●●●●●●
146. 62187254 c.190A>G p.I64V missense 0.00000825●●●●●●
147. 62211475 c.2146G>A p.A716T missense 0.00000825●●●●●●
148. 62204963 c.1408C>G p.L470V missense 0.00000825●●●●●●
149. 62204931 c.1376C>T p.P459L missense 0.00000825●●●●●●
150. 62200949 c.974A>G p.Y325C missense 0.00000825●●●●●●
151. 62211480 c.2151G>C p.Q717H missense 0.00000825●●●●●●
152. 62188257 c.257C>T p.A86V missense 0.00000825●●●●●●
153. 62207825 c.2012G>A p.R671K missense 0.00000825●●●●●●
154. 62204967 c.1412A>G p.N471S missense 0.00000825●●●●●●
155. 62204943 c.1388G>A p.R463Q missense 0.00000825●●●●●●
156. 62188246 c.246T>G p.D82E missense 0.00000825●●●●●●
157. 62200957 c.982A>C p.K328Q missense 0.00000825●●●●●●
158. 62194215 c.615T>G p.S205R missense 0.00000824●●●●●●
159. 62207544 c.1731C>G p.F577L missense 0.00000824●●●●●●
160. 62207755 c.1942C>T p.H648Y missense 0.00000824●●●●●●
161. 62207536 c.1723C>T p.R575C missense 0.00000824●●●●●●
162. 62203692 c.1114A>G p.T372A missense 0.00000824●●●●●●
163. 62207762 c.1949A>G p.E650G missense 0.00000824●●●●●●
164. 62212412 c.2206A>C p.T736P missense 0.00000824●●●●●●
165. 62207654 c.1841C>T p.A614V missense 0.00000824●●●●●●
166. 62207771 c.1958G>C p.S653T missense 0.00000824●●●●●●
167. 62188328 c.328A>G p.I110V missense 0.00000824●●●●●●
168. 62207709 c.1896G>A p.M632I missense 0.00000824●●●●●●
169. 62203672 c.1094A>G p.E365G missense 0.00000824●●●●●●
170. 62203668 c.1090G>A p.V364I missense 0.00000824●●●●●●
171. 62194229 c.629G>A p.C210Y missense 0.00000824●●●●●●
172. 62207545 c.1732G>A p.D578N missense 0.00000824●●●●●●
173. 62207758 c.1945A>G p.K649E missense 0.00000824●●●●●●
174. 62207735 c.1922C>T p.S641F missense 0.00000824●●●●●●
175. 62207634 c.1821A>G p.I607M missense 0.00000824●●●●●●
176. 62203705 c.1127C>T p.T376I missense 0.00000824●●●●●●
177. 62188325 c.325A>G p.M109V missense 0.00000824●●●●●●
178. 62212428 c.2222C>T p.P741L missense 0.00000824●●●●●●
179. 62194208 c.608C>T p.T203I missense 0.00000824●●●●●●
180. 62207668 c.1855G>A p.A619T missense 0.00000824●●●●●●
181. 62207785 c.1972C>A p.P658T missense 0.00000824●●●●●●
182. 62207721 c.1908A>C p.K636N missense 0.00000824●●●●●●
183. 62187219 c.155C>T p.S52L missense 0.00000824●●●●●●
184. 62203648 c.1070C>G p.T357R missense 0.00000824●●●●●●
185. 62212437 c.2231A>G p.H744R missense 0.00000824●●●●●●
186. 62194285 c.685C>T p.H229Y missense 0.00000824●●●●●●
187. 62207740 c.1927T>G p.S643A missense 0.00000824●●●●●●
188. 62207759 c.1946A>G p.K649R missense 0.00000824●●●●●●
189. 62207657 c.1844C>A p.T615N missense 0.00000824●●●●●●
190. 62212430 c.2224G>A p.D742N missense 0.00000824●●●●●●
191. 62212410 c.2204G>A p.G735E missense 0.00000824●●●●●●
192. 62194213 c.613A>G p.S205G missense 0.00000824●●●●●●
193. 62207788 c.1975T>A p.Y659N missense 0.00000824●●●●●●
194. 62207806 c.1993C>T p.R665W missense 0.00000824●●●●●●
195. 62207552 c.1739T>C p.L580S missense 0.00000824●●●●●●
196. 62187244 c.180G>A p.M60I missense 0.00000824●●●●●●
197. 62212460 c.2254T>C p.W752R missense 0.00000824●●●●●●
198. 62207535 c.1722A>T p.L574F missense 0.00000824●●●●●●
199. 62203653 c.1075T>C p.C359R missense 0.00000824●●●●●●
200. 62207768 c.1955C>T p.T652I missense 0.00000824●●●●●●
201. 62207615 c.1802T>A p.V601E missense 0.00000824●●●●●●
202. 62187188 c.124C>T p.H42Y missense 0.00000824●●●●●●
203. 62213712 c.2390G>A p.S797N missense 0.00000824●●●●●●
204. 62207685 c.1872A>T p.L624F missense 0.00000824●●●●●●
205. 62212435 c.2229T>A p.D743E 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.