SETD1B variants in ExAC

SETD1B gene summary
SETD1B variants in

The table below lists the SETD1B 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. 122260549 c.3935T>C p.L1312P missense 0.02971856●●●●●●
2. 122265770 c.5460+10G>A splice site 0.02435220●●●●●●
3. 122260947 c.4333G>A p.A1445T missense 0.01471059●●●●●●
4. 122255541 c.3165_3167delGGA p.Glu1058del inframe 0.00814932●●●●●●
5. 122255538 c.3162_3167delGGAGGA p.Glu1055_Glu1056del inframe 0.00814932●●●●●●
6. 122260635 c.4021G>C p.G1341R missense 0.00482887●●●●●●
7. 122261163 c.4549G>A p.V1517I missense 0.00430970●●●●●●
8. 122247951 c.1100C>T p.P367L missense 0.00379096●●●●●●
9. 122260486 c.3872C>G p.P1291R missense 0.00334653●●●●●●
10. 122260428 c.3814A>G p.M1272V missense 0.00262636●●●●●●
11. 122255755 c.3234C>A p.D1078E missense 0.00238322●●●●●●
12. 122248083 c.1232C>T p.P411L missense 0.00219265●●●●●●
13. 122261431 c.4817G>A p.R1606H missense 0.00186607●●●●●●
14. 122260479 c.3865C>T p.R1289W missense 0.00174019●●●●●●
15. 122242657 c.14_15insC p.His8ProfsTer30 frameshift 0.00148597●●●●●●
16. 122261248 c.4634C>G p.P1545R missense 0.00114559●●●●●●
17. 122252004 c.1891-8C>T splice site 0.00108309●●●●●●
18. 122255372 c.3074G>A p.R1025Q missense 0.00102647●●●●●●
19. 122260728 c.4114C>A p.P1372T missense 0.00101010●●●●●●
20. 122260924 c.4310_4315delTGCCCT p.Leu1439_Pro1440del inframe 0.00097929●●●●●●
21. 122257478 c.3458T>A p.V1153E missense 0.00095890●●●●●●
22. 122247909 c.1058C>T p.P353L missense 0.00094925●●●●●●
23. 122247864 c.1013C>T p.A338V missense 0.00093743●●●●●●
24. 122263096 c.5042-10C>T splice site 0.00082428●●●●●●
25. 122260562 c.3948C>A p.H1316Q missense 0.00072113●●●●●●
26. 122252502 c.2381A>G p.Y794C missense 0.00071469●●●●●●
27. 122243018 c.175-6C>T splice site 0.00061419●●●●●●
28. 122260879 c.4265C>A p.P1422Q missense 0.00053169●●●●●●
29. 122248329 c.1478A>G p.E493G missense 0.00051825●●●●●●
30. 122248052 c.1201C>G p.Q401E missense 0.00051615●●●●●●
31. 122257571 c.3551C>T p.S1184L missense 0.00050312●●●●●●
32. 122252064 c.1943C>T p.S648L missense 0.00048571●●●●●●
33. 122252528 c.2407G>A p.A803T missense 0.00043245●●●●●●
34. 122252096 c.1975C>T p.P659S missense 0.00042857●●●●●●
35. 122242660 c.17C>A p.P6H missense 0.00042635●●●●●●
36. 122255756 c.3235G>A p.E1079K missense 0.00042395●●●●●●
37. 122261287 c.4673C>T p.P1558L missense 0.00040611●●●●●●
38. 122255501 c.3127-2A>G essential splice site 0.00040523●●●●●●
39. 122260402 c.3788A>T p.D1263V missense 0.00040244●●●●●●
40. 122255297 c.2999G>A p.R1000Q missense 0.00039974●●●●●●
41. 122260857 c.4243C>T p.R1415C missense 0.00039849●●●●●●
42. 122261569 c.4955G>A p.R1652H missense 0.00039358●●●●●●
43. 122255543 c.3167_3168insGGA p.Glu1056dup inframe 0.00036803●●●●●●
44. 122257321 c.3301A>G p.S1101G missense 0.00036620●●●●●●
45. 122257529 c.3509G>A p.G1170E missense 0.00034435●●●●●●
46. 122248205 c.1354C>T p.P452S missense 0.00033979●●●●●●
47. 122247894 c.1043G>C p.G348A missense 0.00030937●●●●●●
48. 122255355 c.3057_3059delGCG p.Arg1021del inframe 0.00030781●●●●●●
49. 122260858 c.4244G>T p.R1415L missense 0.00029809●●●●●●
50. 122260978 c.4364C>G p.T1455S missense 0.00028944●●●●●●
51. 122260495 c.3881C>T p.P1294L missense 0.00028369●●●●●●
52. 122247980 c.1129A>G p.T377A missense 0.00027697●●●●●●
53. 122248329 c.1478A>C p.E493A missense 0.00023034●●●●●●
54. 122248667 c.1816C>T p.L606F missense 0.00022302●●●●●●
55. 122252481 c.2360C>T p.T787M missense 0.00022282●●●●●●
56. 122248505 c.1654C>T p.P552S missense 0.00021299●●●●●●
57. 122257694 c.3674C>T p.P1225L missense 0.00020627●●●●●●
58. 122257627 c.3607C>T p.R1203W missense 0.00020305●●●●●●
59. 122260863 c.4249G>A p.G1417R missense 0.00020206●●●●●●
60. 122252573 c.2452C>T p.R818W missense 0.00019695●●●●●●
61. 122260848 c.4234C>T p.R1412C missense 0.00019670●●●●●●
62. 122252574 c.2453G>A p.R818Q missense 0.00019470●●●●●●
63. 122260540 c.3926C>T p.P1309L missense 0.00019436●●●●●●
64. 122247866 c.1015G>C p.V339L missense 0.00017618●●●●●●
65. 122255008 c.2785G>A p.A929T missense 0.00017214●●●●●●
66. 122261070 c.4456A>G p.M1486V missense 0.00016595●●●●●●
67. 122248223 c.1372G>A p.D458N missense 0.00016343●●●●●●
68. 122248629 c.1778G>A p.R593Q missense 0.00015781●●●●●●
69. 122247594 c.743G>T p.G248V missense 0.00015185●●●●●●
70. 122254933 c.2716-6C>T splice site 0.00015069●●●●●●
71. 122248250 c.1399C>T p.R467W missense 0.00015015●●●●●●
72. 122261568 c.4954C>G p.R1652G missense 0.00014739●●●●●●
73. 122257450 c.3430G>A p.E1144K missense 0.00013400●●●●●●
74. 122261344 c.4730C>T p.P1577L missense 0.00013180●●●●●●
75. 122254983 c.2760C>G p.D920E missense 0.00013065●●●●●●
76. 122247528 c.677G>A p.R226H missense 0.00012089●●●●●●
77. 122242657 c.14_15insCC p.His8ProfsTer28 frameshift 0.00011888●●●●●●
78. 122252609 c.2488C>T p.R830C missense 0.00011104●●●●●●
79. 122261007 c.4393C>G p.L1465V missense 0.00010970●●●●●●
80. 122255720 c.3199G>A p.D1067N missense 0.00010860●●●●●●
81. 122260698 c.4084G>A p.G1362S missense 0.00010858●●●●●●
82. 122248504 c.1653G>C p.Q551H missense 0.00010637●●●●●●
83. 122260683 c.4069T>C p.S1357P missense 0.00010611●●●●●●
84. 122242669 c.26A>C p.H9P missense 0.00010570●●●●●●
85. 122260417 c.3803C>T p.P1268L missense 0.00010523●●●●●●
86. 122260816 c.4202T>G p.L1401R missense 0.00010498●●●●●●
87. 122261248 c.4634C>T p.P1545L missense 0.00010414●●●●●●
88. 122260824 c.4210G>T p.V1404F missense 0.00010348●●●●●●
89. 122260561 c.3947_3948insC p.His1319AlafsTer55 frameshift 0.00010336●●●●●●
90. 122247568 c.717_719delCTC p.Ser242del inframe 0.00010266●●●●●●
91. 122255423 c.3125C>T p.S1042L missense 0.00010238●●●●●●
92. 122243020 c.175-4A>G splice site 0.00010223●●●●●●
93. 122246206 c.637A>G p.I213V missense 0.00010193●●●●●●
94. 122255432 c.3126+8C>T splice site 0.00010192●●●●●●
95. 122247751 c.900C>A p.F300L missense 0.00010181●●●●●●
96. 122255494 c.3127-9G>A splice site 0.00010130●●●●●●
97. 122247686 c.835C>A p.L279M missense 0.00010115●●●●●●
98. 122260856 c.4242A>T p.E1414D missense 0.00009876●●●●●●
99. 122260842 c.4228G>A p.G1410S missense 0.00009750●●●●●●
100. 122261544 c.4930G>A p.G1644S missense 0.00009730●●●●●●
101. 122268050 c.5677A>C p.N1893H missense 0.00009670●●●●●●
102. 122248749 c.1890+8C>G splice site 0.00009477●●●●●●
103. 122254961 c.2738C>T p.S913L missense 0.00009270●●●●●●
104. 122257484 c.3464A>C p.E1155A missense 0.00009188●●●●●●
105. 122257474 c.3454A>G p.M1152V missense 0.00009115●●●●●●
106. 122257475 c.3455T>C p.M1152T missense 0.00009106●●●●●●
107. 122261047 c.4433G>A p.R1478Q missense 0.00008900●●●●●●
108. 122257372 c.3352T>G p.S1118A missense 0.00008872●●●●●●
109. 122257423 c.3403_3405delGAG p.Glu1135del inframe 0.00008872●●●●●●
110. 122257396 c.3376G>A p.E1126K missense 0.00008861●●●●●●
111. 122260638 c.4024G>A p.G1342R missense 0.00008708●●●●●●
112. 122265714 c.5414C>T p.A1805V missense 0.00008656●●●●●●
113. 122261272 c.4658C>T p.P1553L missense 0.00008457●●●●●●
114. 122248212 c.1361C>T p.P454L missense 0.00008443●●●●●●
115. 122248149 c.1298C>T p.A433V missense 0.00008401●●●●●●
116. 122248137 c.1286G>T p.R429L missense 0.00008236●●●●●●
117. 122261085 c.4471G>A p.G1491R missense 0.00008101●●●●●●
118. 122248133 c.1282T>C p.F428L missense 0.00008026●●●●●●
119. 122261089 c.4475C>A p.P1492H missense 0.00008015●●●●●●
120. 122261098 c.4484G>A p.R1495Q missense 0.00007906●●●●●●
121. 122255270 c.2978-6C>T splice site 0.00007899●●●●●●
122. 122252118 c.1997C>T p.A666V missense 0.00007765●●●●●●
123. 122247505 c.658-4T>C splice site 0.00007758●●●●●●
124. 122248119 c.1268G>A p.R423H missense 0.00007753●●●●●●
125. 122248118 c.1267C>T p.R423C missense 0.00007720●●●●●●
126. 122255312 c.3014C>A p.T1005N missense 0.00007695●●●●●●
127. 122261215 c.4601C>T p.A1534V missense 0.00007676●●●●●●
128. 122261214 c.4600G>A p.A1534T missense 0.00007665●●●●●●
129. 122252006 c.1891-6C>G splice site 0.00007618●●●●●●
130. 122260620 c.4006G>T p.V1336L missense 0.00007610●●●●●●
131. 122261178 c.4564C>G p.H1522D missense 0.00007448●●●●●●
132. 122248251 c.1400G>A p.R467Q missense 0.00007434●●●●●●
133. 122261160 c.4546C>G p.P1516A missense 0.00007433●●●●●●
134. 122261170 c.4556C>G p.P1519R missense 0.00007419●●●●●●
135. 122265427 c.5211C>T splice site 0.00007285●●●●●●
136. 122252081 c.1960G>A p.A654T missense 0.00006993●●●●●●
137. 122252060 c.1939C>A p.P647T missense 0.00006934●●●●●●
138. 122247981 c.1130C>T p.T377I missense 0.00006922●●●●●●
139. 122248704 c.1853T>C p.V618A missense 0.00006753●●●●●●
140. 122248703 c.1852G>T p.V618F missense 0.00006750●●●●●●
141. 122248703 c.1852G>C p.V618L missense 0.00006750●●●●●●
142. 122247938 c.1087A>C p.S363R missense 0.00006627●●●●●●
143. 122248277 c.1426C>A p.P476T missense 0.00006602●●●●●●
144. 122255818 c.3289+8G>A splice site 0.00006529●●●●●●
145. 122255817 c.3289+7A>C splice site 0.00006437●●●●●●
146. 122261352 c.4738C>T p.R1580C missense 0.00006425●●●●●●
147. 122255345 c.3047G>T p.G1016V missense 0.00006416●●●●●●
148. 122254988 c.2765C>T p.P922L missense 0.00006314●●●●●●
149. 122247906 c.1055T>A p.L352H missense 0.00006304●●●●●●
150. 122255347 c.3049G>A p.V1017M missense 0.00006289●●●●●●
151. 122255353 c.3055G>A p.V1019M missense 0.00006177●●●●●●
152. 122248302 c.1451C>T p.T484M missense 0.00006155●●●●●●
153. 122248688 c.1837G>A p.V613M missense 0.00006152●●●●●●
154. 122247884 c.1033G>C p.A345P missense 0.00006134●●●●●●
155. 122248311 c.1460C>T p.S487L missense 0.00005987●●●●●●
156. 122260397 c.3783A>G splice site 0.00005966●●●●●●
157. 122261383 c.4769T>C p.M1590T missense 0.00005900●●●●●●
158. 122257774 c.3754C>A p.P1252T missense 0.00005880●●●●●●
159. 122261400 c.4786C>T p.R1596W missense 0.00005809●●●●●●
160. 122257772 c.3752G>C p.R1251P missense 0.00005802●●●●●●
161. 122243731 c.274-10C>T splice site 0.00005754●●●●●●
162. 122261407 c.4793C>T p.P1598L missense 0.00005710●●●●●●
163. 122248339 c.1488C>G p.H496Q missense 0.00005681●●●●●●
164. 122255789 c.3268G>A p.D1090N missense 0.00005680●●●●●●
165. 122248340 c.1489G>A p.D497N missense 0.00005671●●●●●●
166. 122267965 c.5599-7C>T splice site 0.00005527●●●●●●
167. 122255045 c.2822G>T p.G941V missense 0.00005527●●●●●●
168. 122257748 c.3728C>A p.P1243H missense 0.00005469●●●●●●
169. 122248410 c.1559C>T p.P520L missense 0.00005444●●●●●●
170. 122260572 c.3958A>T p.T1320S missense 0.00005423●●●●●●
171. 122248544 c.1693T>A p.S565T missense 0.00005382●●●●●●
172. 122248538 c.1687C>T p.R563C missense 0.00005380●●●●●●
173. 122248437 c.1586A>T p.E529V missense 0.00005370●●●●●●
174. 122247832 c.981T>A p.H327Q missense 0.00005361●●●●●●
175. 122255729 c.3208G>T p.D1070Y missense 0.00005349●●●●●●
176. 122255174 c.2951C>T p.S984L missense 0.00005333●●●●●●
177. 122243128 c.273+6A>G splice site 0.00005332●●●●●●
178. 122244006 c.539C>T p.T180I missense 0.00005317●●●●●●
179. 122257732 c.3712T>A p.L1238M missense 0.00005315●●●●●●
180. 122255742 c.3221C>T p.S1074F missense 0.00005302●●●●●●
181. 122255753 c.3232G>A p.D1078N missense 0.00005293●●●●●●
182. 122248594 c.1743C>G p.D581E missense 0.00005277●●●●●●
183. 122257726 c.3706G>A p.A1236T missense 0.00005276●●●●●●
184. 122252625 c.2504C>T p.P835L missense 0.00005273●●●●●●
185. 122248610 c.1759G>A p.D587N missense 0.00005271●●●●●●
186. 122260567 c.3953C>T p.P1318L missense 0.00005258●●●●●●
187. 122255537 c.3161C>T p.A1054V missense 0.00005258●●●●●●
188. 122243127 c.273+5G>A splice site 0.00005257●●●●●●
189. 122247804 c.953C>T p.T318M missense 0.00005250●●●●●●
190. 122242676 c.33C>G p.H11Q missense 0.00005244●●●●●●
191. 122242675 c.32A>G p.H11R missense 0.00005230●●●●●●
192. 122246232 c.657+6T>C splice site 0.00005219●●●●●●
193. 122242687 c.44C>T p.P15L missense 0.00005193●●●●●●
194. 122243121 c.272A>G p.K91R missense 0.00005190●●●●●●
195. 122257702 c.3682G>A p.E1228K missense 0.00005170●●●●●●
196. 122247782 c.931C>T p.R311W missense 0.00005163●●●●●●
197. 122242732 c.89G>A p.R30K missense 0.00005140●●●●●●
198. 122252793 c.2672G>C p.R891P missense 0.00005137●●●●●●
199. 122247773 c.922T>C p.F308L missense 0.00005131●●●●●●
200. 122252675 c.2554C>T p.R852C missense 0.00005106●●●●●●
201. 122255433 c.3126+9G>A splice site 0.00005092●●●●●●
202. 122257648 c.3628C>T p.P1210S missense 0.00005088●●●●●●
203. 122255523 c.3147G>C p.E1049D missense 0.00005074●●●●●●
204. 122257609 c.3589G>A p.A1197T missense 0.00005065●●●●●●
205. 122252751 c.2630A>G p.K877R missense 0.00005060●●●●●●
206. 122247647 c.796C>T p.P266S missense 0.00005054●●●●●●
207. 122243826 c.359G>A p.R120K missense 0.00005050●●●●●●
208. 122257555 c.3535G>T p.A1179S missense 0.00005003●●●●●●
209. 122257550 c.3530C>T p.P1177L missense 0.00004995●●●●●●
210. 122261461 c.4847C>T p.S1616L missense 0.00004948●●●●●●
211. 122261466 c.4852G>A p.E1618K missense 0.00004934●●●●●●
212. 122265563 c.5340+7C>T splice site 0.00004891●●●●●●
213. 122265564 c.5340+8C>T splice site 0.00004889●●●●●●
214. 122268039 c.5666A>C p.H1889P missense 0.00004872●●●●●●
215. 122257519 c.3499G>A p.E1167K missense 0.00004840●●●●●●
216. 122260438 c.3824C>A p.P1275H missense 0.00004820●●●●●●
217. 122260531 c.3917C>G p.S1306C missense 0.00004819●●●●●●
218. 122263255 c.5191C>A p.P1731T missense 0.00004763●●●●●●
219. 122268092 c.5719G>A p.V1907I missense 0.00004752●●●●●●
220. 122260509 c.3895A>G p.T1299A missense 0.00004743●●●●●●
221. 122260498 c.3884C>T p.P1295L missense 0.00004730●●●●●●
222. 122263133 c.5069A>C p.K1690T missense 0.00004691●●●●●●
223. 122265977 c.5598+1G>C essential splice site 0.00004666●●●●●●
224. 122257490 c.3470G>A p.S1157N missense 0.00004628●●●●●●
225. 122263181 c.5117G>C p.S1706T missense 0.00004620●●●●●●
226. 122257473 c.3453_3454insGAC p.Glu1151_Met1152insAsp inframe 0.00004554●●●●●●
227. 122257331 c.3311_3313delCCT p.Ser1105del inframe 0.00004545●●●●●●
228. 122257468 c.3448G>A p.E1150K missense 0.00004512●●●●●●
229. 122257346 c.3326C>T p.A1109V missense 0.00004489●●●●●●
230. 122257349 c.3329C>T p.T1110M missense 0.00004476●●●●●●
231. 122257459 c.3439_3441delGAG p.Glu1147del inframe 0.00004472●●●●●●
232. 122265875 c.5497G>A p.E1833K missense 0.00004467●●●●●●
233. 122257415 c.3395C>T p.S1132L missense 0.00004441●●●●●●
234. 122257412 c.3392C>T p.S1131F missense 0.00004440●●●●●●
235. 122257405 c.3385C>T p.P1129S missense 0.00004439●●●●●●
236. 122265713 c.5413G>A p.A1805T missense 0.00004328●●●●●●

* 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.