GHR variants in ExAC

GHR gene summary
GHR variants in

The table below lists the GHR 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. 42719239 c.1630A>C p.I544L missense 0.44338592●●●●●●
2. 42719344 c.1735C>A p.P579T missense 0.04043984●●●●●●
3. 42718928 c.1319G>T p.C440F missense 0.04034694●●●●●●
4. 42700021 c.535C>T p.R179C missense 0.00409302●●●●●●
5. 42713522 c.785-9G>A splice site 0.00369007●●●●●●
6. 42719092 c.1483C>A p.P495T missense 0.00202203●●●●●●
7. 42699970 c.484G>A p.V162I missense 0.00136948●●●●●●
8. 42711376 c.686G>A p.R229H missense 0.00130978●●●●●●
9. 42713631 c.875+10G>C splice site 0.00073550●●●●●●
10. 42718577 c.968A>G p.N323S missense 0.00059668●●●●●●
11. 42695200 c.439+9C>T splice site 0.00049295●●●●●●
12. 42718604 c.995A>G p.Y332C missense 0.00047939●●●●●●
13. 42565967 c.-10T>C splice site 0.00047772●●●●●●
14. 42689094 c.239G>T p.G80V missense 0.00037901●●●●●●
15. 42719151 c.1542T>G p.C514W missense 0.00033486●●●●●●
16. 42711408 c.718T>C p.Y240H missense 0.00032124●●●●●●
17. 42629151 c.82A>G p.I28V missense 0.00031786●●●●●●
18. 42689061 c.206C>T p.T69I missense 0.00030480●●●●●●
19. 42700022 c.536G>A p.R179H missense 0.00029711●●●●●●
20. 42718765 c.1156C>T p.R386C missense 0.00027187●●●●●●
21. 42695163 c.411T>A p.D137E missense 0.00022346●●●●●●
22. 42713560 c.814A>G p.I272V missense 0.00018141●●●●●●
23. 42718997 c.1388G>A p.G463E missense 0.00017314●●●●●●
24. 42695158 c.406G>T p.V136L missense 0.00016552●●●●●●
25. 42695016 c.267-3T>C splice site 0.00016203●●●●●●
26. 42699970 c.484G>T p.V162F missense 0.00014025●●●●●●
27. 42718766 c.1157G>A p.R386H missense 0.00013183●●●●●●
28. 42699937 c.451C>T p.P151S missense 0.00012375●●●●●●
29. 42566037 c.61G>A p.G21R missense 0.00012355●●●●●●
30. 42711433 c.743A>G p.Y248C missense 0.00011533●●●●●●
31. 42718670 c.1061A>T p.D354V missense 0.00010708●●●●●●
32. 42719117 c.1508C>T p.P503L missense 0.00008397●●●●●●
33. 42689037 c.182G>A p.R61Q missense 0.00008238●●●●●●
34. 42629167 c.98C>A p.P33H missense 0.00008162●●●●●●
35. 42719198 c.1589T>C p.M530T missense 0.00007429●●●●●●
36. 42719072 c.1463C>T p.A488V missense 0.00006649●●●●●●
37. 42719308 c.1699A>T p.I567F missense 0.00006624●●●●●●
38. 42566016 c.40G>A p.G14R missense 0.00006590●●●●●●
39. 42689025 c.170G>A p.R57H missense 0.00005767●●●●●●
40. 42566022 c.46A>G p.S16G missense 0.00005766●●●●●●
41. 42711414 c.724G>A p.E242K missense 0.00005766●●●●●●
42. 42700082 c.596T>C p.V199A missense 0.00005308●●●●●●
43. 42719467 c.1858G>A p.E620K missense 0.00004951●●●●●●
44. 42711350 c.660G>T p.L220F missense 0.00004943●●●●●●
45. 42719138 c.1529G>A p.G510E missense 0.00004195●●●●●●
46. 42719312 c.1703C>T p.T568I missense 0.00004139●●●●●●
47. 42718612 c.1003G>A p.E335K missense 0.00004130●●●●●●
48. 42695119 c.367A>C p.I123L missense 0.00003328●●●●●●
49. 42718177 c.899C>T p.P300L missense 0.00003313●●●●●●
50. 42713584 c.838G>A p.V280M missense 0.00003298●●●●●●
51. 42718640 c.1031A>C p.E344A missense 0.00003295●●●●●●
52. 42718742 c.1133G>A p.G378E missense 0.00003295●●●●●●
53. 42718719 c.1110T>A p.H370Q missense 0.00003295●●●●●●
54. 42629188 c.119A>T p.N40I missense 0.00002743●●●●●●
55. 42695010 c.267-9T>C splice site 0.00002698●●●●●●
56. 42718550 c.946-5T>C splice site 0.00002507●●●●●●
57. 42695161 c.409G>C p.D137H missense 0.00002483●●●●●●
58. 42695153 c.401G>A p.G134D missense 0.00002483●●●●●●
59. 42718598 c.989A>T p.D330V missense 0.00002481●●●●●●
60. 42699919 c.440-7T>C splice site 0.00002476●●●●●●
61. 42719041 c.1432C>G p.P478A missense 0.00002476●●●●●●
62. 42699983 c.497G>A p.G166E missense 0.00002475●●●●●●
63. 42718775 c.1166G>C p.C389S missense 0.00002472●●●●●●
64. 42719408 c.1799T>C p.I600T missense 0.00002472●●●●●●
65. 42711416 c.726G>C p.E242D missense 0.00002471●●●●●●
66. 42689039 c.184G>A p.E62K missense 0.00002471●●●●●●
67. 42718716 c.1107C>A p.D369E missense 0.00002471●●●●●●
68. 42711375 c.685C>T p.R229C missense 0.00002471●●●●●●
69. 42718697 c.1088A>G p.D363G missense 0.00002471●●●●●●
70. 42566001 c.25A>G p.T9A missense 0.00002471●●●●●●
71. 42629137 c.71-3C>T splice site 0.00001831●●●●●●
72. 42629187 c.118A>T p.N40Y missense 0.00001826●●●●●●
73. 42629161 c.92G>A p.R31K missense 0.00001814●●●●●●
74. 42695032 c.280T>C p.W94R missense 0.00001805●●●●●●
75. 42695032 c.280T>A p.W94R missense 0.00001805●●●●●●
76. 42700088 c.602A>G p.E201G missense 0.00001770●●●●●●
77. 42719147 c.1538A>G p.Q513R missense 0.00001675●●●●●●
78. 42719104 c.1495G>A p.V499M missense 0.00001674●●●●●●
79. 42718550 c.946-5T>G splice site 0.00001672●●●●●●
80. 42719162 c.1553C>T p.P518L missense 0.00001670●●●●●●
81. 42695114 c.362T>G p.I121S missense 0.00001669●●●●●●
82. 42719083 c.1474G>A p.D492N missense 0.00001666●●●●●●
83. 42718567 c.958_960delGAG p.Glu321del inframe 0.00001661●●●●●●
84. 42695183 c.431A>T p.D144V missense 0.00001660●●●●●●
85. 42695179 c.427G>A p.V143I missense 0.00001659●●●●●●
86. 42718206 c.928G>A p.D310N missense 0.00001658●●●●●●
87. 42718203 c.925A>C p.I309L missense 0.00001658●●●●●●
88. 42718203 c.925A>T p.I309F missense 0.00001658●●●●●●
89. 42718174 c.896C>T p.P299L missense 0.00001657●●●●●●
90. 42719292 c.1683C>A p.N561K missense 0.00001655●●●●●●
91. 42718592 c.983T>C p.I328T missense 0.00001655●●●●●●
92. 42719497 c.1888A>C p.T630P missense 0.00001655●●●●●●
93. 42718595 c.986A>C p.H329P missense 0.00001654●●●●●●
94. 42713631 c.875+10G>T splice site 0.00001653●●●●●●
95. 42718944 c.1335G>C p.Q445H missense 0.00001650●●●●●●
96. 42699985 c.499A>G p.I167V missense 0.00001650●●●●●●
97. 42718955 c.1346T>C p.I449T missense 0.00001650●●●●●●
98. 42718913 c.1304C>G p.P435R missense 0.00001650●●●●●●
99. 42699989 c.503A>C p.H168P missense 0.00001650●●●●●●
100. 42711480 c.784+6A>G splice site 0.00001650●●●●●●
101. 42711477 c.784+3A>G splice site 0.00001650●●●●●●
102. 42719464 c.1855A>G p.K619E missense 0.00001650●●●●●●
103. 42711481 c.784+7G>C splice site 0.00001650●●●●●●
104. 42719438 c.1829A>G p.N610S missense 0.00001649●●●●●●
105. 42719396 c.1787C>A p.T596N missense 0.00001649●●●●●●
106. 42689036 c.181C>T p.R61X nonsense 0.00001648●●●●●●
107. 42711328 c.638C>T p.T213I missense 0.00001648●●●●●●
108. 42718828 c.1219G>T p.G407C missense 0.00001648●●●●●●
109. 42719404 c.1795C>A p.H599N missense 0.00001648●●●●●●
110. 42711309 c.619A>G p.M207V missense 0.00001648●●●●●●
111. 42711318 c.628A>G p.I210V missense 0.00001648●●●●●●
112. 42719411 c.1802_1803delTA p.Val601AlafsTer17 frameshift 0.00001648●●●●●●
113. 42718822 c.1213C>T p.H405Y missense 0.00001648●●●●●●
114. 42566007 c.31G>T p.A11S missense 0.00001647●●●●●●
115. 42718706 c.1097T>G p.L366R missense 0.00001647●●●●●●
116. 42565977 c.1A>G p.Met1? missense 0.00001647●●●●●●
117. 0 c.-11-1G>C essential splice site 0.00001647●●●●●●
118. 42700107 c.618+3A>G splice site 0.00000972●●●●●●
119. 42629206 c.136+1G>A essential splice site 0.00000934●●●●●●
120. 42629196 c.127C>G p.L43V missense 0.00000921●●●●●●
121. 42629193 c.124G>A p.G42S missense 0.00000918●●●●●●
122. 42629139 c.71-1G>C essential splice site 0.00000914●●●●●●
123. 42629141 c.72C>T splice site 0.00000912●●●●●●
124. 42629152 c.83T>G p.I28S missense 0.00000908●●●●●●
125. 42695029 c.277G>C p.E93Q missense 0.00000903●●●●●●
126. 42695012 c.267-7A>T splice site 0.00000899●●●●●●
127. 42700090 c.604A>G p.T202A missense 0.00000895●●●●●●
128. 42700081 c.595G>A p.V199I missense 0.00000866●●●●●●
129. 42695102 c.350C>A p.S117X nonsense 0.00000845●●●●●●
130. 42700067 c.581T>G p.L194R missense 0.00000842●●●●●●
131. 42719134 c.1525G>A p.A509T missense 0.00000839●●●●●●
132. 42718230 c.945+7A>G splice site 0.00000838●●●●●●
133. 42719107 c.1498G>A p.V500I missense 0.00000837●●●●●●
134. 42718227 c.945+4_945+5delAC splice site 0.00000836●●●●●●
135. 42719083 c.1474G>C p.D492H missense 0.00000833●●●●●●
136. 42718152 c.876-2_876-1delAG essential splice site 0.00000833●●●●●●
137. 42695116 c.364T>G p.W122G missense 0.00000833●●●●●●
138. 42718557 c.948A>C p.E316D missense 0.00000833●●●●●●
139. 42695187 c.435A>C p.E145D missense 0.00000831●●●●●●
140. 42719176 c.1567C>A p.L523I missense 0.00000830●●●●●●
141. 42719177 c.1568T>A p.L523H missense 0.00000830●●●●●●
142. 42695131 c.379A>G p.I127V missense 0.00000829●●●●●●
143. 42718165 c.887T>A p.L296Q missense 0.00000829●●●●●●
144. 42695158 c.406G>A p.V136M missense 0.00000828●●●●●●
145. 42719296 c.1687G>T p.E563X nonsense 0.00000828●●●●●●
146. 42719503 c.1894C>G p.Q632E missense 0.00000828●●●●●●
147. 42719329 c.1720A>G p.T574A missense 0.00000828●●●●●●
148. 42719306 c.1697A>G p.Y566C missense 0.00000828●●●●●●
149. 42718179 c.901G>A p.V301I missense 0.00000828●●●●●●
150. 42719311 c.1702A>G p.T568A missense 0.00000828●●●●●●
151. 42718201 c.923G>A p.G308E missense 0.00000828●●●●●●
152. 42719314 c.1705A>G p.T569A missense 0.00000828●●●●●●
153. 42719264 c.1655T>C p.V552A missense 0.00000827●●●●●●
154. 42719268 c.1659A>C p.E553D missense 0.00000827●●●●●●
155. 42719286 c.1677_1678insTTAAACCAAGAG p.Ser559_Leu560insLeuAsnGlnGlu inframe 0.00000827●●●●●●
156. 42719489 c.1880A>G p.Y627C missense 0.00000827●●●●●●
157. 42719275 c.1666A>T p.I556L missense 0.00000827●●●●●●
158. 42718595 c.986A>G p.H329R missense 0.00000827●●●●●●
159. 42719272 c.1663C>T p.H555Y missense 0.00000827●●●●●●
160. 42719260 c.1651A>G p.K551E missense 0.00000826●●●●●●
161. 42719246 c.1637T>A p.V546E missense 0.00000826●●●●●●
162. 42719246 c.1637T>G p.V546G missense 0.00000826●●●●●●
163. 42719242 c.1633_1637delCCTGT p.Pro545GlyfsTer7 frameshift 0.00000826●●●●●●
164. 42719252 c.1643C>G p.P548R missense 0.00000826●●●●●●
165. 42718615 c.1006T>C p.F336L missense 0.00000826●●●●●●
166. 42719368 c.1759G>C p.G587R missense 0.00000826●●●●●●
167. 42719236 c.1627T>C p.C543R missense 0.00000825●●●●●●
168. 42699925 c.440-1G>A essential splice site 0.00000825●●●●●●
169. 42718871 c.1262C>A p.A421E missense 0.00000825●●●●●●
170. 42699944 c.458T>C p.I153T missense 0.00000825●●●●●●
171. 42718951 c.1342G>C p.V448L missense 0.00000825●●●●●●
172. 42719218 c.1609G>A p.E537K missense 0.00000825●●●●●●
173. 42700031 c.545A>G p.D182G missense 0.00000825●●●●●●
174. 42713541 c.795T>G p.F265L missense 0.00000825●●●●●●
175. 42713558 c.812T>C p.I271T missense 0.00000825●●●●●●
176. 42713562 c.816C>G p.I272M missense 0.00000825●●●●●●
177. 42700025 c.539A>G p.N180S missense 0.00000825●●●●●●
178. 42719461 c.1852G>A p.D618N missense 0.00000825●●●●●●
179. 42699965 c.479T>G p.L160R missense 0.00000825●●●●●●
180. 42713591 c.845T>C p.L282P missense 0.00000825●●●●●●
181. 42719222 c.1613C>G p.A538G missense 0.00000825●●●●●●
182. 42699990 c.504T>G p.H168Q missense 0.00000825●●●●●●
183. 42700034 c.548T>C p.I183T missense 0.00000825●●●●●●
184. 42718916 c.1307A>G p.Y436C missense 0.00000825●●●●●●
185. 42718976 c.1367C>T p.P456L missense 0.00000825●●●●●●
186. 42719463 c.1854C>G p.D618E missense 0.00000825●●●●●●
187. 42719231 c.1622A>G p.K541R missense 0.00000825●●●●●●
188. 42718871 c.1262C>G p.A421G missense 0.00000825●●●●●●
189. 42718622 c.1013G>C p.S338T missense 0.00000825●●●●●●
190. 42719204 c.1595A>C p.N532T missense 0.00000825●●●●●●
191. 42718924 c.1315G>A p.A439T missense 0.00000825●●●●●●
192. 42700007 c.521G>A p.R174K missense 0.00000825●●●●●●
193. 42688998 c.143C>A p.S48Y missense 0.00000824●●●●●●
194. 42711340 c.650T>C p.V217A missense 0.00000824●●●●●●
195. 42711432 c.742T>C p.Y248H missense 0.00000824●●●●●●
196. 42566026 c.50A>G p.D17G missense 0.00000824●●●●●●
197. 42565992 c.16C>G p.L6V missense 0.00000824●●●●●●
198. 42719002 c.1393G>A p.E465K missense 0.00000824●●●●●●
199. 42718643 c.1034_1036delTTA p.Ile346del inframe 0.00000824●●●●●●
200. 42719441 c.1832C>T p.A611V missense 0.00000824●●●●●●
201. 42718790 c.1181T>C p.I394T missense 0.00000824●●●●●●
202. 42718692 c.1083C>G p.D361E missense 0.00000824●●●●●●
203. 42689118 c.263G>C p.R88T missense 0.00000824●●●●●●
204. 42689069 c.214G>T p.V72F missense 0.00000824●●●●●●
205. 0 c.-11-3C>T splice site 0.00000824●●●●●●
206. 42719023 c.1414C>T p.H472Y missense 0.00000824●●●●●●
207. 42711376 c.686G>T p.R229L missense 0.00000824●●●●●●
208. 42711367 c.677A>T p.Y226F missense 0.00000824●●●●●●
209. 42718853 c.1244A>G p.Q415R missense 0.00000824●●●●●●
210. 42718823 c.1214A>C p.H405P missense 0.00000824●●●●●●
211. 42718718 c.1109A>G p.H370R missense 0.00000824●●●●●●
212. 42718739 c.1130T>C p.L377P missense 0.00000824●●●●●●
213. 42711360 c.670delA p.K224Rfs*7 frameshift 0.00000824●●●●●●
214. 42719405 c.1796A>T p.H599L missense 0.00000824●●●●●●
215. 42718757 c.1148A>T p.D383V missense 0.00000824●●●●●●
216. 42689036 c.181C>G p.R61G missense 0.00000824●●●●●●
217. 42566001 c.25A>T p.T9S missense 0.00000824●●●●●●
218. 42711333 c.643G>T p.V215F missense 0.00000824●●●●●●
219. 42718796 c.1187A>G p.E396G missense 0.00000824●●●●●●
220. 42718714 c.1105G>A p.D369N missense 0.00000824●●●●●●
221. 42689102 c.247C>A p.Q83K missense 0.00000824●●●●●●
222. 42688995 c.140C>G p.S47C missense 0.00000824●●●●●●
223. 42689064 c.209A>C p.D70A missense 0.00000824●●●●●●
224. 42689024 c.169C>T p.R57C missense 0.00000824●●●●●●
225. 42711393 c.703C>T p.R235X nonsense 0.00000824●●●●●●
226. 42711382 c.692G>A p.R231K missense 0.00000824●●●●●●
227. 42711371 c.681A>C p.E227D missense 0.00000824●●●●●●
228. 42718856 c.1247G>C p.R416T missense 0.00000824●●●●●●
229. 42718838 c.1229A>G p.E410G missense 0.00000824●●●●●●
230. 42718729 c.1120C>A p.H374N missense 0.00000824●●●●●●
231. 42689023 c.168C>A p.C56X nonsense 0.00000824●●●●●●
232. 42718750 c.1141G>A p.D381N missense 0.00000824●●●●●●
233. 42689100 c.245T>C p.I82T missense 0.00000824●●●●●●
234. 42719410 c.1801G>T p.V601L missense 0.00000824●●●●●●
235. 42711325 c.635C>T p.T212I missense 0.00000824●●●●●●
236. 42718663 c.1054G>A p.E352K missense 0.00000824●●●●●●
237. 42566044 c.68A>G p.E23G missense 0.00000824●●●●●●
238. 42565986 c.10T>C p.W4R missense 0.00000824●●●●●●
239. 42711334 c.644T>C p.V215A missense 0.00000824●●●●●●
240. 42718811 c.1202C>G p.A401G missense 0.00000824●●●●●●
241. 42718717 c.1108C>T p.H370Y missense 0.00000824●●●●●●
242. 42689115 c.260C>T p.T87I missense 0.00000824●●●●●●
243. 42688997 c.142T>C p.S48P missense 0.00000824●●●●●●
244. 42565980 c.4G>C p.D2H missense 0.00000824●●●●●●
245. 42711423 c.733G>A p.E245K missense 0.00000824●●●●●●
246. 42566022 c.46A>C p.S16R missense 0.00000824●●●●●●
247. 42718813 c.1204A>C p.N402H missense 0.00000824●●●●●●
248. 42689033 c.178G>A p.E60K missense 0.00000824●●●●●●
249. 42718789 c.1180A>G p.I394V missense 0.00000824●●●●●●
250. 42718753 c.1144G>T p.G382C missense 0.00000824●●●●●●
251. 42689037 c.182G>T p.R61L missense 0.00000824●●●●●●
252. 42718814 c.1205A>T p.N402I missense 0.00000824●●●●●●
253. 42711308 c.619-1G>T essential splice site 0.00000824●●●●●●
254. 42719008 c.1399A>C p.T467P missense 0.00000824●●●●●●
255. 42711343 c.653A>G p.Y218C missense 0.00000824●●●●●●
256. 42718846 c.1237C>G p.Q413E missense 0.00000824●●●●●●
257. 42718729 c.1120C>T p.H374Y 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.