GHR missense variants in ExAC

GHR gene summary
GHR variants in

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