SCARB1 missense variants in ExAC

SCARB1 gene summary
SCARB1 variants in

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