SF3B3 missense variants in ExAC

SF3B3 gene summary
SF3B3 variants in

The table below lists the SF3B3 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. 70590898 c.1976C>T p.S659L missense 0.00982031●●●●●●
2. 70602219 c.2986A>G p.I996V missense 0.00168037●●●●●●
3. 70601320 c.2833G>T p.V945L missense 0.00070559●●●●●●
4. 70602955 c.3175C>T p.P1059S missense 0.00052916●●●●●●
5. 70572328 c.928A>G p.I310V missense 0.00032974●●●●●●
6. 70597871 c.2381G>A p.S794N missense 0.00021418●●●●●●
7. 70597912 c.2422A>C p.T808P missense 0.00010710●●●●●●
8. 70602280 c.3047G>A p.R1016H missense 0.00008238●●●●●●
9. 70603028 c.3248A>G p.N1083S missense 0.00006691●●●●●●
10. 70594475 c.2114G>A p.R705Q missense 0.00005769●●●●●●
11. 70566422 c.611C>T p.T204I missense 0.00005766●●●●●●
12. 70599080 c.2576A>G p.N859S missense 0.00005766●●●●●●
13. 70597895 c.2405C>T p.T802M missense 0.00005766●●●●●●
14. 70562989 c.284C>T p.S95F missense 0.00005766●●●●●●
15. 70566392 c.581A>G p.N194S missense 0.00004944●●●●●●
16. 70563062 c.357G>T p.Q119H missense 0.00004126●●●●●●
17. 70595542 c.2143A>G p.M715V missense 0.00004120●●●●●●
18. 70599354 c.2753G>A p.R918Q missense 0.00004119●●●●●●
19. 70599410 c.2809C>G p.L937V missense 0.00003314●●●●●●
20. 70599374 c.2773G>A p.V925I missense 0.00003297●●●●●●
21. 70603958 c.3314A>G p.Q1105R missense 0.00003297●●●●●●
22. 70599368 c.2767G>A p.G923S missense 0.00003296●●●●●●
23. 70599106 c.2602G>C p.V868L missense 0.00003295●●●●●●
24. 70582330 c.1387C>T p.R463C missense 0.00003295●●●●●●
25. 70599284 c.2683A>G p.R895G missense 0.00003295●●●●●●
26. 70603943 c.3299C>T p.T1100M missense 0.00002473●●●●●●
27. 70602300 c.3067A>G p.I1023V missense 0.00002472●●●●●●
28. 70590125 c.1754C>T p.A585V missense 0.00002471●●●●●●
29. 70602196 c.2963A>G p.N988S missense 0.00002471●●●●●●
30. 70597882 c.2392A>G p.I798V missense 0.00002471●●●●●●
31. 70605044 c.3455A>G p.H1152R missense 0.00002471●●●●●●
32. 70602381 c.3148T>C p.F1050L missense 0.00001709●●●●●●
33. 70562778 c.73A>G p.T25A missense 0.00001680●●●●●●
34. 70605583 c.3521T>C p.I1174T missense 0.00001660●●●●●●
35. 70572228 c.828T>A p.N276K missense 0.00001654●●●●●●
36. 70569322 c.824G>A p.R275Q missense 0.00001653●●●●●●
37. 70601401 c.2914C>A p.L972M missense 0.00001651●●●●●●
38. 70562805 c.100C>T p.R34C missense 0.00001650●●●●●●
39. 70560603 c.44G>A p.S15N missense 0.00001649●●●●●●
40. 70597878 c.2388C>A p.N796K missense 0.00001648●●●●●●
41. 70599350 c.2749C>G p.P917A missense 0.00001648●●●●●●
42. 70590849 c.1927G>A p.V643M missense 0.00001648●●●●●●
43. 70597918 c.2428G>T p.A810S missense 0.00001648●●●●●●
44. 70566505 c.694G>A p.G232S missense 0.00001648●●●●●●
45. 70599314 c.2713G>T p.V905L missense 0.00001647●●●●●●
46. 70599294 c.2693A>C p.N898T missense 0.00001647●●●●●●
47. 70590131 c.1760T>C p.V587A missense 0.00001647●●●●●●
48. 70562997 c.292A>G p.M98V missense 0.00001647●●●●●●
49. 70590152 c.1781A>G p.N594S missense 0.00001647●●●●●●
50. 70590188 c.1817C>G p.A606G missense 0.00001647●●●●●●
51. 70573104 c.1061G>C p.G354A missense 0.00001647●●●●●●
52. 70602952 c.3172C>T p.L1058F missense 0.00001163●●●●●●
53. 70602956 c.3176C>G p.P1059R missense 0.00001115●●●●●●
54. 70602959 c.3179C>G p.P1060R missense 0.00001086●●●●●●
55. 70603013 c.3233A>G p.D1078G missense 0.00001047●●●●●●
56. 70602968 c.3188A>G p.N1063S missense 0.00001036●●●●●●
57. 70564650 c.400G>T p.A134S missense 0.00000842●●●●●●
58. 70564657 c.407A>G p.E136G missense 0.00000836●●●●●●
59. 70599420 c.2819T>C p.L940S missense 0.00000833●●●●●●
60. 70602363 c.3130G>A p.V1044M missense 0.00000832●●●●●●
61. 70605579 c.3517G>A p.V1173M missense 0.00000832●●●●●●
62. 70605708 c.3646G>A p.A1216T missense 0.00000830●●●●●●
63. 70564801 c.551G>C p.C184S missense 0.00000830●●●●●●
64. 70562793 c.88A>G p.I30V missense 0.00000828●●●●●●
65. 70590901 c.1979T>C p.I660T missense 0.00000828●●●●●●
66. 70599406 c.2805A>T p.E935D missense 0.00000827●●●●●●
67. 70601329 c.2842G>A p.V948I missense 0.00000827●●●●●●
68. 70563072 c.367G>C p.V123L missense 0.00000826●●●●●●
69. 70601333 c.2846C>T p.P949L missense 0.00000826●●●●●●
70. 70603915 c.3271G>T p.V1091L missense 0.00000826●●●●●●
71. 70563072 c.367G>A p.V123M missense 0.00000826●●●●●●
72. 70603915 c.3271G>A p.V1091M missense 0.00000826●●●●●●
73. 70602342 c.3109A>G p.S1037G missense 0.00000826●●●●●●
74. 70563072 c.367G>T p.V123L missense 0.00000826●●●●●●
75. 70602345 c.3112C>G p.L1038V missense 0.00000826●●●●●●
76. 70602345 c.3112C>T p.L1038F missense 0.00000826●●●●●●
77. 70601383 c.2896C>G p.L966V missense 0.00000825●●●●●●
78. 70599390 c.2789T>C p.L930P missense 0.00000825●●●●●●
79. 70605690 c.3628G>T p.D1210Y missense 0.00000825●●●●●●
80. 70595678 c.2279A>G p.N760S missense 0.00000825●●●●●●
81. 70562806 c.101G>T p.R34L missense 0.00000825●●●●●●
82. 70588973 c.1574G>A p.R525Q missense 0.00000825●●●●●●
83. 70601344 c.2857G>A p.A953T missense 0.00000825●●●●●●
84. 70563069 c.364G>T p.A122S missense 0.00000825●●●●●●
85. 70599384 c.2783A>G p.Y928C missense 0.00000825●●●●●●
86. 70560573 c.14A>G p.N5S missense 0.00000825●●●●●●
87. 70601347 c.2860C>G p.P954A missense 0.00000825●●●●●●
88. 70563069 c.364G>A p.A122T missense 0.00000825●●●●●●
89. 70578350 c.1243C>G p.L415V missense 0.00000825●●●●●●
90. 70603928 c.3284A>G p.Y1095C missense 0.00000825●●●●●●
91. 70601341 c.2854A>G p.I952V missense 0.00000825●●●●●●
92. 70598977 c.2473G>A p.E825K missense 0.00000825●●●●●●
93. 70597848 c.2358G>C p.R786S missense 0.00000824●●●●●●
94. 70590848 c.1926C>G p.I642M missense 0.00000824●●●●●●
95. 70588978 c.1579A>G p.I527V missense 0.00000824●●●●●●
96. 70602210 c.2977A>T p.I993F missense 0.00000824●●●●●●
97. 70566505 c.694G>T p.G232C missense 0.00000824●●●●●●
98. 70575670 c.1166C>T p.P389L missense 0.00000824●●●●●●
99. 70566490 c.679C>G p.P227A missense 0.00000824●●●●●●
100. 70578357 c.1250A>G p.N417S missense 0.00000824●●●●●●
101. 70562937 c.232A>G p.I78V missense 0.00000824●●●●●●
102. 70605628 c.3566A>C p.K1189T missense 0.00000824●●●●●●
103. 70599293 c.2692A>G p.N898D missense 0.00000824●●●●●●
104. 70597904 c.2414A>G p.N805S missense 0.00000824●●●●●●
105. 70594376 c.2015G>A p.G672D missense 0.00000824●●●●●●
106. 70590872 c.1950G>T p.K650N missense 0.00000824●●●●●●
107. 70605037 c.3448T>C p.S1150P missense 0.00000824●●●●●●
108. 70566419 c.608A>G p.N203S missense 0.00000824●●●●●●
109. 70603969 c.3325C>A p.L1109M missense 0.00000824●●●●●●
110. 70590158 c.1787C>G p.P596R missense 0.00000824●●●●●●
111. 70566409 c.598G>A p.A200T missense 0.00000824●●●●●●
112. 70588381 c.1435G>A p.V479M missense 0.00000824●●●●●●
113. 70562995 c.290A>C p.N97T missense 0.00000824●●●●●●
114. 70573055 c.1012G>T p.A338S missense 0.00000824●●●●●●
115. 70599104 c.2600G>A p.R867Q missense 0.00000824●●●●●●
116. 70599001 c.2497G>C p.E833Q missense 0.00000824●●●●●●
117. 70597850 c.2360A>G p.K787R missense 0.00000824●●●●●●
118. 70569232 c.734C>T p.P245L missense 0.00000824●●●●●●
119. 70589002 c.1603G>A p.E535K missense 0.00000824●●●●●●
120. 70595629 c.2230G>A p.G744S missense 0.00000824●●●●●●
121. 70578392 c.1285A>G p.R429G missense 0.00000824●●●●●●
122. 70599378 c.2777A>G p.Y926C missense 0.00000824●●●●●●
123. 70562940 c.235G>T p.V79L missense 0.00000824●●●●●●
124. 70605639 c.3577G>A p.V1193I missense 0.00000824●●●●●●
125. 70572308 c.908C>G p.A303G missense 0.00000824●●●●●●
126. 70578399 c.1292C>A p.P431H missense 0.00000824●●●●●●
127. 70604999 c.3410A>T p.D1137V missense 0.00000824●●●●●●
128. 70594429 c.2068C>T p.R690C missense 0.00000824●●●●●●
129. 70590160 c.1789C>G p.P597A missense 0.00000824●●●●●●
130. 70597795 c.2305A>G p.K769E missense 0.00000824●●●●●●
131. 70582334 c.1391G>A p.R464Q missense 0.00000824●●●●●●
132. 70602283 c.3050A>C p.N1017T missense 0.00000824●●●●●●
133. 70588464 c.1518G>T p.L506F missense 0.00000824●●●●●●
134. 70575706 c.1202T>C p.L401S missense 0.00000824●●●●●●
135. 70573060 c.1017G>C p.M339I missense 0.00000824●●●●●●
136. 70595554 c.2155T>A p.S719T missense 0.00000824●●●●●●
137. 70562892 c.187C>T p.R63W missense 0.00000824●●●●●●
138. 70605625 c.3563A>G p.N1188S missense 0.00000824●●●●●●
139. 70599122 c.2618A>C p.Q873P missense 0.00000824●●●●●●
140. 70590864 c.1942A>G p.T648A missense 0.00000824●●●●●●
141. 70597885 c.2395A>G p.I799V missense 0.00000824●●●●●●
142. 70590877 c.1955A>G p.D652G missense 0.00000824●●●●●●
143. 70597864 c.2374C>T p.P792S missense 0.00000824●●●●●●
144. 70595629 c.2230G>C p.G744R missense 0.00000824●●●●●●
145. 70569285 c.787G>A p.D263N missense 0.00000824●●●●●●
146. 70589044 c.1645G>A p.V549M missense 0.00000824●●●●●●
147. 70578401 c.1294C>G p.R432G missense 0.00000824●●●●●●
148. 70573020 c.977G>A p.R326Q missense 0.00000824●●●●●●
149. 70599297 c.2696C>T p.T899I missense 0.00000824●●●●●●
150. 70599315 c.2714T>C p.V905A missense 0.00000824●●●●●●
151. 70562985 c.280C>T p.P94S missense 0.00000824●●●●●●
152. 70599294 c.2693A>G p.N898S missense 0.00000824●●●●●●
153. 70605047 c.3458C>G p.P1153R missense 0.00000824●●●●●●
154. 70599010 c.2506G>A p.A836T missense 0.00000824●●●●●●
155. 70602267 c.3034G>A p.V1012I missense 0.00000824●●●●●●
156. 70605024 c.3435A>C p.E1145D missense 0.00000824●●●●●●
157. 70594469 c.2108G>A p.R703Q missense 0.00000824●●●●●●
158. 70597820 c.2330T>C p.V777A missense 0.00000824●●●●●●
159. 70588472 c.1526C>T p.S509F missense 0.00000824●●●●●●
160. 70582340 c.1397T>C p.I466T missense 0.00000824●●●●●●
161. 70602199 c.2966A>G p.Y989C missense 0.00000824●●●●●●
162. 70562964 c.259A>G p.I87V missense 0.00000824●●●●●●
163. 70599368 c.2767G>T p.G923C missense 0.00000824●●●●●●
164. 70575604 c.1100A>G p.D367G missense 0.00000824●●●●●●
165. 70605626 c.3564C>A p.N1188K missense 0.00000824●●●●●●
166. 70599130 c.2626A>T p.T876S missense 0.00000824●●●●●●
167. 70595608 c.2209G>A p.E737K missense 0.00000824●●●●●●
168. 70605658 c.3596G>A p.R1199Q missense 0.00000824●●●●●●
169. 70562895 c.190T>G p.S64A missense 0.00000824●●●●●●
170. 70590865 c.1943C>G p.T648S missense 0.00000824●●●●●●
171. 70562845 c.140C>T p.T47I missense 0.00000824●●●●●●
172. 70595659 c.2260A>G p.I754V missense 0.00000824●●●●●●
173. 70569298 c.800T>A p.I267N missense 0.00000824●●●●●●
174. 70590153 c.1782T>G p.N594K missense 0.00000824●●●●●●
175. 70589078 c.1679G>C p.G560A missense 0.00000824●●●●●●
176. 70582315 c.1372G>A p.A458T missense 0.00000824●●●●●●
177. 70566401 c.590C>G p.T197R missense 0.00000824●●●●●●
178. 70599312 c.2711A>G p.Y904C missense 0.00000824●●●●●●
179. 70573046 c.1003G>A p.V335I missense 0.00000824●●●●●●
180. 70563042 c.337C>T p.R113C missense 0.00000824●●●●●●
181. 70599341 c.2740A>T p.I914L missense 0.00000824●●●●●●
182. 70563010 c.305T>C p.I102T missense 0.00000824●●●●●●
183. 70599098 c.2594T>C p.V865A 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.