CYP7A1 variants in ExAC

CYP7A1 gene summary
CYP7A1 variants in

The table below lists the CYP7A1 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. 59409760 c.322-11T>C splice site 0.00854347●●●●●●
2. 59407054 c.1039+11T>C splice site 0.00469569●●●●●●
3. 59404935 c.1192C>G p.P398A missense 0.00324520●●●●●●
4. 59407065 c.1039G>A p.D347N missense 0.00281727●●●●●●
5. 59412620 c.38C>T p.A13V missense 0.00197749●●●●●●
6. 59411034 c.81-6T>C splice site 0.00109580●●●●●●
7. 59409373 c.698A>G p.N233S missense 0.00104606●●●●●●
8. 59410853 c.256C>A p.H86N missense 0.00103806●●●●●●
9. 59409292 c.779G>T p.R260L missense 0.00042006●●●●●●
10. 59411001 c.108T>A p.N36K missense 0.00038716●●●●●●
11. 59409493 c.578C>T p.T193I missense 0.00028004●●●●●●
12. 59404998 c.1129G>A p.G377S missense 0.00025534●●●●●●
13. 59404140 c.1409T>C p.I470T missense 0.00018148●●●●●●
14. 59405036 c.1091G>A p.R364Q missense 0.00017298●●●●●●
15. 59407161 c.943G>A p.V315M missense 0.00016476●●●●●●
16. 59404257 c.1292A>G p.K431R missense 0.00014839●●●●●●
17. 59404300 c.1249G>A p.G417R missense 0.00013210●●●●●●
18. 59405008 c.1119C>G p.H373Q missense 0.00009884●●●●●●
19. 59404192 c.1357G>A p.E453K missense 0.00009075●●●●●●
20. 59409379 c.692C>T p.A231V missense 0.00009060●●●●●●
21. 59407167 c.937G>A p.E313K missense 0.00007414●●●●●●
22. 59410885 c.224A>G p.Y75C missense 0.00007413●●●●●●
23. 59404904 c.1215+8C>T splice site 0.00007413●●●●●●
24. 59404914 c.1213T>C splice site 0.00006589●●●●●●
25. 59409527 c.544G>T p.A182S missense 0.00006589●●●●●●
26. 59404101 c.1448G>C p.R483P missense 0.00005791●●●●●●
27. 59410952 c.157C>T p.L53F missense 0.00005766●●●●●●
28. 59409736 c.335G>A p.R112K missense 0.00005037●●●●●●
29. 59404303 c.1246A>G p.N416D missense 0.00004955●●●●●●
30. 59410813 c.296A>C p.K99T missense 0.00004950●●●●●●
31. 59411023 c.86C>T p.T29M missense 0.00004943●●●●●●
32. 59404080 c.1469C>T p.P490L missense 0.00004163●●●●●●
33. 59404311 c.1238_1239delTT frameshift 0.00004133●●●●●●
34. 59404245 c.1304T>C p.M435T missense 0.00004122●●●●●●
35. 59404071 c.1478A>G p.N493S missense 0.00003351●●●●●●
36. 59410788 c.321G>T p.K107N missense 0.00003305●●●●●●
37. 59409560 c.511A>T p.M171L missense 0.00003296●●●●●●
38. 59404952 c.1175A>G p.Q392R missense 0.00003295●●●●●●
39. 59409328 c.743A>T p.Q248L missense 0.00003295●●●●●●
40. 59404985 c.1142T>G p.I381S missense 0.00003295●●●●●●
41. 59404065 c.1484T>C p.I495T missense 0.00002534●●●●●●
42. 59404101 c.1448G>A p.R483Q missense 0.00002482●●●●●●
43. 59409601 c.470T>C p.V157A missense 0.00002482●●●●●●
44. 59404102 c.1447C>T p.R483W missense 0.00002481●●●●●●
45. 59404206 c.1343T>G p.L448W missense 0.00002473●●●●●●
46. 59404256 c.1293G>T p.K431N missense 0.00002473●●●●●●
47. 59404230 c.1319G>A p.G440E missense 0.00002473●●●●●●
48. 59412606 c.52C>G p.L18V missense 0.00002472●●●●●●
49. 59409430 c.641_642delAA p.Lys214SerfsTer51 frameshift 0.00002471●●●●●●
50. 59404968 c.1159A>G p.I387V missense 0.00002471●●●●●●
51. 59409542 c.529C>T p.R177X nonsense 0.00002471●●●●●●
52. 59410877 c.232T>A p.F78I missense 0.00002471●●●●●●
53. 59409503 c.568A>G p.R190G missense 0.00002471●●●●●●
54. 59409724 c.347C>T p.P116L missense 0.00001678●●●●●●
55. 59409646 c.425C>A p.T142K missense 0.00001666●●●●●●
56. 59404080 c.1469C>G p.P490R missense 0.00001665●●●●●●
57. 59409157 c.908+6T>G splice site 0.00001664●●●●●●
58. 59409626 c.445C>A p.L149I missense 0.00001660●●●●●●
59. 59409169 c.902T>C p.M301T missense 0.00001654●●●●●●
60. 59405069 c.1058C>T p.S353L missense 0.00001651●●●●●●
61. 59409187 c.884T>C p.F295S missense 0.00001649●●●●●●
62. 59412577 c.80+1_80+5delGTAAG essential splice site 0.00001649●●●●●●
63. 59404248 c.1301A>T p.Y434F missense 0.00001649●●●●●●
64. 59404175 c.1374G>T p.L458F missense 0.00001649●●●●●●
65. 59412611 c.47G>A p.C16Y missense 0.00001648●●●●●●
66. 59410835 c.274G>A p.G92R missense 0.00001648●●●●●●
67. 59407063 c.1039+2T>A essential splice site 0.00001648●●●●●●
68. 59411021 c.88G>A p.G30S missense 0.00001648●●●●●●
69. 59409214 c.857C>T p.S286L missense 0.00001647●●●●●●
70. 59404909 c.1215+3A>G splice site 0.00001647●●●●●●
71. 59404945 c.1182G>T p.M394I missense 0.00001647●●●●●●
72. 59409220 c.851G>T p.W284L missense 0.00001647●●●●●●
73. 59405037 c.1090C>T p.R364W missense 0.00001647●●●●●●
74. 59409499 c.572A>G p.D191G missense 0.00001647●●●●●●
75. 59404965 c.1162G>A p.A388T missense 0.00001647●●●●●●
76. 59409245 c.826G>C p.A276P missense 0.00001647●●●●●●
77. 59409356 c.715G>A p.A239T missense 0.00001647●●●●●●
78. 59407109 c.995C>T p.P332L missense 0.00001647●●●●●●
79. 59409488 c.583C>T p.R195W missense 0.00001647●●●●●●
80. 59404912 c.1215G>C p.L405F missense 0.00001647●●●●●●
81. 59410949 c.160G>C p.E54Q missense 0.00001647●●●●●●
82. 59409322 c.749G>T p.R250M missense 0.00001647●●●●●●
83. 59409452 c.619G>C p.D207H missense 0.00001647●●●●●●
84. 59409367 c.704G>A p.R235Q missense 0.00001647●●●●●●
85. 59404055 c.1494A>T p.K498N missense 0.00000854●●●●●●
86. 59409733 c.338G>A p.S113N missense 0.00000839●●●●●●
87. 59409721 c.350T>C p.M117T missense 0.00000839●●●●●●
88. 59409730 c.341T>C p.I114T missense 0.00000839●●●●●●
89. 59409683 c.388A>G p.I130V missense 0.00000837●●●●●●
90. 59409683 c.388A>T p.I130F missense 0.00000837●●●●●●
91. 59404337 c.1216-4G>T splice site 0.00000836●●●●●●
92. 59409667 c.404G>A p.G135D missense 0.00000835●●●●●●
93. 59404339 c.1216-6T>C splice site 0.00000834●●●●●●
94. 59409658 c.413T>C p.L138S missense 0.00000834●●●●●●
95. 59409646 c.425C>T p.T142M missense 0.00000833●●●●●●
96. 59404332 c.1217C>T p.T406I missense 0.00000832●●●●●●
97. 59409634 c.437T>C p.M146T missense 0.00000831●●●●●●
98. 59405079 c.1048A>G p.I350V missense 0.00000830●●●●●●
99. 59404090 c.1459G>A p.G487S missense 0.00000829●●●●●●
100. 59404321 c.1228G>C p.D410H missense 0.00000829●●●●●●
101. 59409615 c.456delC p.Met153Ter frameshift 0.00000829●●●●●●
102. 59409163 c.908G>A p.R303K missense 0.00000828●●●●●●
103. 59404098 c.1451C>T p.A484V missense 0.00000828●●●●●●
104. 59404101 c.1448G>T p.R483L missense 0.00000827●●●●●●
105. 59410783 c.321+5G>A splice site 0.00000827●●●●●●
106. 59409591 c.480C>A p.N160K missense 0.00000827●●●●●●
107. 59410781 c.321+7A>T splice site 0.00000827●●●●●●
108. 59404109 c.1440C>A p.D480E missense 0.00000826●●●●●●
109. 59410789 c.320A>C p.K107T missense 0.00000826●●●●●●
110. 59410785 c.321+3A>G splice site 0.00000826●●●●●●
111. 59404108 c.1441C>G p.Q481E missense 0.00000826●●●●●●
112. 59410796 c.313T>G p.S105A missense 0.00000826●●●●●●
113. 59404135 c.1414G>A p.G472S missense 0.00000825●●●●●●
114. 59410822 c.287A>C p.D96A missense 0.00000825●●●●●●
115. 59410811 c.298T>A p.F100I missense 0.00000825●●●●●●
116. 59404298 c.1251delG p.Lys418ArgfsTer13 frameshift 0.00000825●●●●●●
117. 59404284 c.1265C>T p.T422I missense 0.00000825●●●●●●
118. 59404128 c.1421C>T p.A474V missense 0.00000825●●●●●●
119. 59410813 c.296A>T p.K99I missense 0.00000825●●●●●●
120. 59409182 c.889A>T p.S297C missense 0.00000825●●●●●●
121. 59404293 c.1256C>A p.T419K missense 0.00000825●●●●●●
122. 59404191 c.1358A>G p.E453G missense 0.00000825●●●●●●
123. 59410810 c.299T>G p.F100C missense 0.00000825●●●●●●
124. 59409183 c.888G>C p.W296C missense 0.00000825●●●●●●
125. 59404298 c.1251dupG p.Lys418GlufsTer9 frameshift 0.00000825●●●●●●
126. 59407190 c.914C>T p.P305L missense 0.00000824●●●●●●
127. 59407121 c.983T>C p.L328S missense 0.00000824●●●●●●
128. 59407145 c.959delA p.Glu320GlyfsTer16 frameshift 0.00000824●●●●●●
129. 59404983 c.1144C>T p.R382X nonsense 0.00000824●●●●●●
130. 59404913 c.1214T>G p.L405W missense 0.00000824●●●●●●
131. 59409497 c.574C>A p.L192I missense 0.00000824●●●●●●
132. 59404935 c.1192C>A p.P398T missense 0.00000824●●●●●●
133. 59404222 c.1327A>G p.I443V missense 0.00000824●●●●●●
134. 59412630 c.28A>G p.I10V missense 0.00000824●●●●●●
135. 59409512 c.559A>G p.I187V missense 0.00000824●●●●●●
136. 59410964 c.145G>A p.G49S missense 0.00000824●●●●●●
137. 59409434 c.637G>A p.D213N missense 0.00000824●●●●●●
138. 59404248 c.1301A>G p.Y434C missense 0.00000824●●●●●●
139. 59404166 c.1383G>A p.M461I missense 0.00000824●●●●●●
140. 59405027 c.1100A>T p.K367M missense 0.00000824●●●●●●
141. 59409292 c.779G>A p.R260H missense 0.00000824●●●●●●
142. 59409564 c.507A>T p.E169D missense 0.00000824●●●●●●
143. 59409541 c.530G>A p.R177Q missense 0.00000824●●●●●●
144. 59404264 c.1285A>C p.K429Q missense 0.00000824●●●●●●
145. 59409470 c.601C>T p.H201Y missense 0.00000824●●●●●●
146. 59410963 c.146G>A p.G49D missense 0.00000824●●●●●●
147. 59410891 c.218G>T p.G73V missense 0.00000824●●●●●●
148. 59409289 c.782T>C p.M261T missense 0.00000824●●●●●●
149. 59404222 c.1327A>C p.I443L missense 0.00000824●●●●●●
150. 59410931 c.178C>A p.Q60K missense 0.00000824●●●●●●
151. 59405008 c.1119C>A p.H373Q missense 0.00000824●●●●●●
152. 59409517 c.554T>A p.L185X nonsense 0.00000824●●●●●●
153. 59404959 c.1168T>C p.Y390H missense 0.00000824●●●●●●
154. 59412647 c.11C>T p.T4I missense 0.00000824●●●●●●
155. 59410991 c.118C>T p.P40S missense 0.00000824●●●●●●
156. 59409434 c.637G>C p.D213H missense 0.00000824●●●●●●
157. 59409380 c.691G>T p.A231S missense 0.00000824●●●●●●
158. 59409193 c.878C>T p.A293V missense 0.00000824●●●●●●
159. 59409339 c.732C>G p.H244Q missense 0.00000824●●●●●●
160. 59407133 c.971A>G p.Q324R missense 0.00000824●●●●●●
161. 59407066 c.1038A>T p.L346F missense 0.00000824●●●●●●
162. 59407099 c.1005G>C p.L335F missense 0.00000824●●●●●●
163. 59410855 c.254A>G p.Y85C missense 0.00000824●●●●●●
164. 59404971 c.1156A>T p.I386F missense 0.00000824●●●●●●
165. 59412621 c.37G>A p.A13T missense 0.00000824●●●●●●
166. 59411027 c.82C>A p.Q28K missense 0.00000824●●●●●●
167. 59409479 c.592C>T p.Q198X nonsense 0.00000824●●●●●●
168. 59412578 c.80G>T p.R27M missense 0.00000824●●●●●●
169. 59410916 c.193C>T p.H65Y missense 0.00000824●●●●●●
170. 59409337 c.734A>C p.E245A missense 0.00000824●●●●●●
171. 59404233 c.1316C>T p.S439L missense 0.00000824●●●●●●
172. 59409487 c.584G>A p.R195Q missense 0.00000824●●●●●●
173. 59410936 c.173C>T p.A58V missense 0.00000824●●●●●●
174. 59404165 c.1384C>G p.L462V missense 0.00000824●●●●●●
175. 59405055 c.1072A>G p.S358G missense 0.00000824●●●●●●
176. 59404262 c.1287_1291delGTTAA p.Leu430ValfsTer35 frameshift 0.00000824●●●●●●
177. 59409314 c.757A>G p.I253V missense 0.00000824●●●●●●
178. 59404952 c.1175A>T p.Q392L missense 0.00000824●●●●●●
179. 59409220 c.851G>A p.Trp284Ter nonsense 0.00000824●●●●●●
180. 59407102 c.1002_1005delTTTG p.Cys334Ter frameshift 0.00000824●●●●●●
181. 59404249 c.1300T>C p.Y434H missense 0.00000824●●●●●●
182. 59410947 c.162G>C p.E54D missense 0.00000824●●●●●●
183. 59411015 c.94C>A p.P32T missense 0.00000824●●●●●●
184. 59409437 c.634T>A p.F212I missense 0.00000824●●●●●●
185. 59404208 c.1341A>T p.R447S missense 0.00000824●●●●●●
186. 59409200 c.871A>G p.I291V missense 0.00000824●●●●●●
187. 59407187 c.917A>C p.E306A missense 0.00000824●●●●●●
188. 59407074 c.1030C>A p.P344T missense 0.00000824●●●●●●
189. 59404982 c.1145G>A p.R382Q missense 0.00000824●●●●●●
190. 59412633 c.25G>A p.G9R missense 0.00000824●●●●●●
191. 59405001 c.1126G>A p.D376N missense 0.00000824●●●●●●
192. 59412626 c.32C>T p.A11V missense 0.00000824●●●●●●
193. 59409433 c.638A>G p.D213G missense 0.00000824●●●●●●
194. 59410922 c.187C>A p.H63N missense 0.00000824●●●●●●
195. 59409377 c.694C>T p.H232Y missense 0.00000824●●●●●●
196. 59404240 c.1309T>C p.F437L missense 0.00000824●●●●●●
197. 59409490 c.581G>A p.R194K missense 0.00000824●●●●●●
198. 59404165 c.1384C>T p.L462F missense 0.00000824●●●●●●
199. 59405020 c.1107T>G p.D369E missense 0.00000824●●●●●●
200. 59411032 c.81-4A>G splice site 0.00000824●●●●●●
201. 59407062 c.1039+3G>T splice site 0.00000824●●●●●●
202. 59409264 c.807dupC p.Phe270LeufsTer2 frameshift 0.00000824●●●●●●
203. 59409539 c.532G>A p.V178M missense 0.00000824●●●●●●
204. 59404967 c.1160T>C p.I387T missense 0.00000824●●●●●●
205. 59409265 c.806C>T p.T269I missense 0.00000824●●●●●●
206. 59409469 c.602A>G p.H201R missense 0.00000824●●●●●●
207. 59404267 c.1282C>T p.L428F missense 0.00000824●●●●●●
208. 59410879 c.230A>T p.H77L missense 0.00000824●●●●●●
209. 59409253 c.818T>C p.L273P missense 0.00000824●●●●●●
210. 59404215 c.1334C>T p.P445L 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.