SCARB1 variants in ExAC

SCARB1 gene summary
SCARB1 variants in

The table below lists the SCARB1 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. 125348263 c.4G>A p.G2S missense 0.10841664●●●●●●
2. 125299542 c.403G>A p.V135I missense 0.01326657●●●●●●
3. 125279821 c.1129-7G>A splice site 0.01059430●●●●●●
4. 125299559 c.386C>T p.S129L missense 0.00282505●●●●●●
5. 125284671 c.1127C>T p.P376L missense 0.00065174●●●●●●
6. 125292308 c.1008C>T splice site 0.00057973●●●●●●
7. 125296457 c.685A>G p.S229G missense 0.00047138●●●●●●
8. 125294844 c.727-9T>C splice site 0.00038257●●●●●●
9. 125292325 c.991G>A p.V331I missense 0.00029723●●●●●●
10. 125271996 c.1210G>A p.G404R missense 0.00024892●●●●●●
11. 125348184 c.83T>C p.M28T missense 0.00020546●●●●●●
12. 125302251 c.129C>T p.N43N splice site 0.00019770●●●●●●
13. 125348137 c.126+4G>A splice site 0.00017450●●●●●●
14. 125299614 c.331G>A p.V111M missense 0.00017331●●●●●●
15. 125302166 c.214G>A p.V72I missense 0.00014005●●●●●●
16. 125279810 c.1133C>T p.T378M missense 0.00012356●●●●●●
17. 125298879 c.499G>A p.G167S missense 0.00010708●●●●●●
18. 125296427 c.715G>A p.G239R missense 0.00010560●●●●●●
19. 125271047 c.1257C>T p.S419S splice site 0.00009950●●●●●●
20. 125302136 c.244G>A p.E82K missense 0.00009071●●●●●●
21. 125298855 c.523A>G p.T175A missense 0.00008237●●●●●●
22. 125298904 c.474C>G p.I158M missense 0.00008237●●●●●●
23. 125294713 c.842+7A>G splice site 0.00007602●●●●●●
24. 125294817 c.745G>T p.D249Y missense 0.00007426●●●●●●
25. 125296499 c.643G>A p.D215N missense 0.00007143●●●●●●
26. 125302114 c.266G>A p.R89H missense 0.00006616●●●●●●
27. 125284678 c.1120A>G p.I374V missense 0.00006598●●●●●●
28. 125292360 c.956G>T p.G319V missense 0.00006594●●●●●●
29. 125302257 c.127-4G>A splice site 0.00006591●●●●●●
30. 125298947 c.431C>T p.A144V missense 0.00005773●●●●●●
31. 125302181 c.199G>A p.V67I missense 0.00005766●●●●●●
32. 125348224 c.43G>A p.G15S missense 0.00005580●●●●●●
33. 125348221 c.46G>A p.V16I missense 0.00005356●●●●●●
34. 125294751 c.811T>C p.S271P missense 0.00004958●●●●●●
35. 125302192 c.188T>G p.F63C missense 0.00004942●●●●●●
36. 125298858 c.520C>T p.R174C missense 0.00004942●●●●●●
37. 125292303 c.1009+4C>T splice site 0.00004149●●●●●●
38. 125298873 c.505C>T p.R169C missense 0.00004118●●●●●●
39. 125296408 c.726+8G>A splice site 0.00003813●●●●●●
40. 125296455 c.687C>G p.S229R missense 0.00003786●●●●●●
41. 125272011 c.1203-8A>G splice site 0.00003624●●●●●●
42. 125271941 c.1254+11G>T splice site 0.00003559●●●●●●
43. 125348230 c.37G>T p.A13S missense 0.00003370●●●●●●
44. 125299665 c.285-5C>G splice site 0.00003321●●●●●●
45. 125270944 c.1360G>A p.V454I missense 0.00003302●●●●●●
46. 125284673 c.1125C>G p.H375Q missense 0.00003300●●●●●●
47. 125302132 c.248A>T p.K83M missense 0.00003299●●●●●●
48. 125298872 c.506G>A p.R169H missense 0.00003295●●●●●●
49. 125302247 c.133C>T p.R45C missense 0.00003295●●●●●●
50. 125298858 c.520C>A p.R174S missense 0.00003295●●●●●●
51. 125267329 c.1430G>T p.S477I missense 0.00003295●●●●●●
52. 125298800 c.578A>G p.K193R missense 0.00003295●●●●●●
53. 125279818 c.1129-4G>A splice site 0.00003295●●●●●●
54. 125294721 c.841C>T p.R281X nonsense 0.00002515●●●●●●
55. 125302103 c.277G>A p.V93M missense 0.00002493●●●●●●
56. 125271046 c.1258G>T p.G420W missense 0.00002486●●●●●●
57. 125294750 c.812C>T p.S271L missense 0.00002480●●●●●●
58. 125302120 c.260G>A p.R87Q missense 0.00002477●●●●●●
59. 125299620 c.325G>A p.D109N missense 0.00002477●●●●●●
60. 125284667 c.1128+3G>A splice site 0.00002475●●●●●●
61. 125284747 c.1051G>A p.D351N missense 0.00002473●●●●●●
62. 125298924 c.454C>T p.P152S missense 0.00002472●●●●●●
63. 125302260 c.127-7C>A splice site 0.00002472●●●●●●
64. 125298857 c.521G>A p.R174H missense 0.00002471●●●●●●
65. 125267310 c.1449T>G p.D483E missense 0.00002471●●●●●●
66. 125279769 c.1174C>A p.L392I missense 0.00002471●●●●●●
67. 125298884 c.494C>T p.T165I missense 0.00002471●●●●●●
68. 125296442 c.700G>A p.V234M missense 0.00001961●●●●●●
69. 125348203 c.64G>A p.A22T missense 0.00001805●●●●●●
70. 125299665 c.285-5C>A splice site 0.00001660●●●●●●
71. 125292307 c.1009A>T p.S337C missense 0.00001657●●●●●●
72. 125294833 c.729T>C splice site 0.00001654●●●●●●
73. 125299551 c.394G>A p.D132N missense 0.00001654●●●●●●
74. 125270911 c.1393C>T p.R465W missense 0.00001653●●●●●●
75. 125292476 c.843-3C>A splice site 0.00001653●●●●●●
76. 125270923 c.1381A>G p.I461V missense 0.00001652●●●●●●
77. 125299563 c.382G>A p.G128S missense 0.00001652●●●●●●
78. 125271025 c.1279_1280delCT p.Leu427SerfsTer49 frameshift 0.00001652●●●●●●
79. 125270932 c.1372G>A p.V458I missense 0.00001651●●●●●●
80. 125299618 c.327dupC p.Thr110HisfsTer42 frameshift 0.00001651●●●●●●
81. 125294774 c.788C>T p.P263L missense 0.00001650●●●●●●
82. 125299599 c.346T>G p.Y116D missense 0.00001650●●●●●●
83. 125270988 c.1316A>G p.K439R missense 0.00001650●●●●●●
84. 125267232 c.1527_1528delGT p.Ter510Gly frameshift 0.00001649●●●●●●
85. 125267357 c.1402G>A p.E468K missense 0.00001649●●●●●●
86. 125284728 c.1070C>T p.A357V missense 0.00001649●●●●●●
87. 125267320 c.1439G>T p.G480V missense 0.00001648●●●●●●
88. 125267255 c.1504T>C p.S502P missense 0.00001648●●●●●●
89. 125279819 c.1129-5C>T splice site 0.00001648●●●●●●
90. 125302151 c.229G>A p.E77K missense 0.00001648●●●●●●
91. 125267352 c.1407A>C p.K469N missense 0.00001648●●●●●●
92. 125292417 c.899G>A p.R300H missense 0.00001648●●●●●●
93. 125279824 c.1129-10G>T splice site 0.00001648●●●●●●
94. 125292418 c.898C>T p.R300C missense 0.00001648●●●●●●
95. 125279814 c.1129G>A p.V377I missense 0.00001648●●●●●●
96. 125292424 c.892A>T p.T298S missense 0.00001648●●●●●●
97. 125298762 c.616G>A p.G206R missense 0.00001647●●●●●●
98. 125279745 c.1198A>G p.I400V missense 0.00001647●●●●●●
99. 125279732 c.1202+9G>A splice site 0.00001647●●●●●●
100. 125302198 c.182T>C p.I61T missense 0.00001647●●●●●●
101. 125279751 c.1192G>A p.A398T missense 0.00001647●●●●●●
102. 125348178 c.89T>C p.V30A missense 0.00001419●●●●●●
103. 125348166 c.101C>T p.S34L missense 0.00001330●●●●●●
104. 125296426 c.716G>C p.G239A missense 0.00001063●●●●●●
105. 125296504 c.638A>C p.N213T missense 0.00001041●●●●●●
106. 125296447 c.695A>G p.H232R missense 0.00000964●●●●●●
107. 125296474 c.668C>T p.T223M missense 0.00000956●●●●●●
108. 125296465 c.677A>G p.Q226R missense 0.00000942●●●●●●
109. 125296460 c.682A>T p.I228F missense 0.00000939●●●●●●
110. 125272008 c.1203-5T>A splice site 0.00000902●●●●●●
111. 125271947 c.1254+5G>A splice site 0.00000882●●●●●●
112. 125271989 c.1217T>C p.I406T missense 0.00000881●●●●●●
113. 125271962 c.1244G>A p.W415X nonsense 0.00000873●●●●●●
114. 125294712 c.842+8C>G splice site 0.00000846●●●●●●
115. 125302088 c.284+8T>A splice site 0.00000838●●●●●●
116. 125302093 c.284+3G>A splice site 0.00000835●●●●●●
117. 125299662 c.285-2A>C essential splice site 0.00000833●●●●●●
118. 125294728 c.834G>T p.E278D missense 0.00000833●●●●●●
119. 125299660 c.285G>A splice site 0.00000831●●●●●●
120. 125292300 c.1009+7G>A splice site 0.00000831●●●●●●
121. 125292302 c.1009+5G>T splice site 0.00000830●●●●●●
122. 125271054 c.1255-5_1255-3delCTC splice site 0.00000830●●●●●●
123. 125299667 c.285-7C>T splice site 0.00000830●●●●●●
124. 125299665 c.285-5C>T splice site 0.00000830●●●●●●
125. 125292302 c.1009+5G>A splice site 0.00000830●●●●●●
126. 125271054 c.1255-5C>T splice site 0.00000830●●●●●●
127. 125294840 c.727-5C>T splice site 0.00000829●●●●●●
128. 125271046 c.1258G>A p.G420R missense 0.00000829●●●●●●
129. 125294738 c.824A>C p.Y275S missense 0.00000829●●●●●●
130. 125294839 c.727-4C>T splice site 0.00000829●●●●●●
131. 125299536 c.409C>T p.P137S missense 0.00000828●●●●●●
132. 125294837 c.727-2A>G essential splice site 0.00000828●●●●●●
133. 125294747 c.815T>A p.L272Q missense 0.00000827●●●●●●
134. 125270915 c.1389A>C p.Q463H missense 0.00000826●●●●●●
135. 125299634 c.311C>T p.T104I missense 0.00000826●●●●●●
136. 125298958 c.427-7C>T splice site 0.00000826●●●●●●
137. 125299630 c.315C>A p.F105L missense 0.00000826●●●●●●
138. 125299595 c.350G>A p.R117H missense 0.00000825●●●●●●
139. 125292446 c.870delA p.Val292CysfsTer67 frameshift 0.00000825●●●●●●
140. 125294798 c.764A>G p.N255S missense 0.00000825●●●●●●
141. 125294763 c.799A>T p.T267S missense 0.00000825●●●●●●
142. 125299613 c.332T>G p.V111G missense 0.00000825●●●●●●
143. 125298944 c.434C>T p.A145V missense 0.00000825●●●●●●
144. 125270989 c.1315A>G p.K439E missense 0.00000825●●●●●●
145. 125270965 c.1339G>A p.V447I missense 0.00000825●●●●●●
146. 125299598 c.347A>T p.Y116F missense 0.00000825●●●●●●
147. 125294774 c.788_789insC p.Pro264AlafsTer6 frameshift 0.00000825●●●●●●
148. 125294817 c.745G>A p.D249N missense 0.00000825●●●●●●
149. 125294766 c.796A>G p.M266V missense 0.00000825●●●●●●
150. 125294759 c.803C>T p.P268L missense 0.00000825●●●●●●
151. 125292331 c.985C>T p.Q329X nonsense 0.00000825●●●●●●
152. 125299595 c.350_351insTGTCCTTCCTCGAGTACCG p.Thr118ValfsTer40 frameshift 0.00000825●●●●●●
153. 125294779 c.783G>A p.M261I missense 0.00000825●●●●●●
154. 125270986 c.1318G>T p.V440L missense 0.00000825●●●●●●
155. 125292460 c.856A>C p.M286L missense 0.00000825●●●●●●
156. 125298950 c.428G>A p.G143D missense 0.00000825●●●●●●
157. 125294762 c.800C>T p.T267I missense 0.00000825●●●●●●
158. 125299613 c.332T>C p.V111A missense 0.00000825●●●●●●
159. 125270964 c.1340T>A p.V447D missense 0.00000825●●●●●●
160. 125267300 c.1459A>G p.I487V missense 0.00000824●●●●●●
161. 125302149 c.231G>C p.E77D missense 0.00000824●●●●●●
162. 125292388 c.928A>T p.N310Y missense 0.00000824●●●●●●
163. 125292384 c.932G>C p.G311A missense 0.00000824●●●●●●
164. 125302163 c.217A>G p.M73V missense 0.00000824●●●●●●
165. 125284740 c.1058T>G p.V353G missense 0.00000824●●●●●●
166. 125279818 c.1129-4_1129-3insC splice site 0.00000824●●●●●●
167. 125298909 c.469C>G p.L157V missense 0.00000824●●●●●●
168. 125302235 c.145A>G p.S49G missense 0.00000824●●●●●●
169. 125302187 c.193C>G p.L65V missense 0.00000824●●●●●●
170. 125292433 c.883G>A p.G295S missense 0.00000824●●●●●●
171. 125292365 c.951C>G p.N317K missense 0.00000824●●●●●●
172. 125298849 c.529G>A p.G177S missense 0.00000824●●●●●●
173. 125279802 c.1141C>T p.P381S missense 0.00000824●●●●●●
174. 125298908 c.470T>C p.L157P missense 0.00000824●●●●●●
175. 125292385 c.931G>A p.G311R missense 0.00000824●●●●●●
176. 125279825 c.1129-11_1129-8delTGTT splice site 0.00000824●●●●●●
177. 125279742 c.1201G>A p.G401R missense 0.00000824●●●●●●
178. 125298771 c.607G>A p.D203N missense 0.00000824●●●●●●
179. 125279761 c.1182G>A p.M394I missense 0.00000824●●●●●●
180. 125302242 c.138C>G p.I46M missense 0.00000824●●●●●●
181. 125302258 c.127-5T>C splice site 0.00000824●●●●●●
182. 125292436 c.880G>A p.E294K missense 0.00000824●●●●●●
183. 125267282 c.1477T>A p.S493T missense 0.00000824●●●●●●
184. 125292366 c.950A>G p.N317S missense 0.00000824●●●●●●
185. 125292427 c.889C>T p.P297S missense 0.00000824●●●●●●
186. 125298879 c.499G>C p.G167R missense 0.00000824●●●●●●
187. 125302165 c.215T>C p.V72A missense 0.00000824●●●●●●
188. 125267313 c.1446G>C p.K482N missense 0.00000824●●●●●●
189. 125292434 c.882A>C p.E294D missense 0.00000824●●●●●●
190. 125302196 c.184C>G p.P62A missense 0.00000824●●●●●●
191. 125298926 c.452A>C p.K151T missense 0.00000824●●●●●●
192. 125302253 c.127A>G p.N43D missense 0.00000824●●●●●●
193. 125267290 c.1469A>T p.Y490F missense 0.00000824●●●●●●
194. 125292385 c.931G>T p.G311W missense 0.00000824●●●●●●
195. 125292377 c.939C>G p.I313M missense 0.00000824●●●●●●
196. 125298923 c.455C>T p.P152L missense 0.00000824●●●●●●
197. 125298870 c.508G>A p.A170T missense 0.00000824●●●●●●
198. 125302217 c.163A>G p.M55V missense 0.00000824●●●●●●
199. 125298935 c.443T>C p.M148T missense 0.00000824●●●●●●
200. 125292351 c.965C>T p.P322L missense 0.00000824●●●●●●
201. 125298783 c.595T>C p.F199L missense 0.00000824●●●●●●
202. 125298845 c.533A>T p.E178V missense 0.00000824●●●●●●
203. 125279798 c.1145T>C p.M382T missense 0.00000824●●●●●●
204. 125298774 c.604A>G p.K202E 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.