HNRNPU variants in ExAC

HNRNPU gene summary
HNRNPU variants in

The table below lists the HNRNPU 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. 245020020 c.1743+10A>C splice site 0.00737659●●●●●●
2. 245018909 c.2169C>T p.A723A splice site 0.00601322●●●●●●
3. 245025910 c.803+11C>T splice site 0.00563482●●●●●●
4. 245019207 c.2166_2167+1delAGG essential splice site 0.00113833●●●●●●
5. 245020022 c.1743+8G>T splice site 0.00081225●●●●●●
6. 245023785 c.878-9T>C splice site 0.00065811●●●●●●
7. 245019290 c.2083A>G p.S695G missense 0.00027184●●●●●●
8. 245027527 c.83A>G p.K28R missense 0.00022810●●●●●●
9. 245026911 c.691+8C>T splice site 0.00020462●●●●●●
10. 245021539 c.1268A>G p.K423R missense 0.00017361●●●●●●
11. 245019207 c.2166A>C p.G722G splice site 0.00015691●●●●●●
12. 245027236 c.374_376delAGG p.Glu125del inframe 0.00013703●●●●●●
13. 245022053 c.1208A>C p.N403T missense 0.00013510●●●●●●
14. 245020168 c.1615-10T>C splice site 0.00012569●●●●●●
15. 245027152 c.458G>A p.G153D missense 0.00011795●●●●●●
16. 245021533 c.1274G>C p.G425A missense 0.00011564●●●●●●
17. 245027387 c.223G>A p.E75K missense 0.00010976●●●●●●
18. 245021347 c.1460G>C p.G487A missense 0.00010738●●●●●●
19. 245027464 c.146G>A p.G49D missense 0.00010465●●●●●●
20. 245022023 c.1230+8A>C splice site 0.00010144●●●●●●
21. 245020971 c.1543A>G p.T515A missense 0.00009888●●●●●●
22. 245027236 c.374A>C p.E125A missense 0.00009457●●●●●●
23. 245027235 c.375G>C p.E125D missense 0.00008592●●●●●●
24. 245019861 c.1810G>A p.V604I missense 0.00008267●●●●●●
25. 245019421 c.1952A>C p.E651A missense 0.00007433●●●●●●
26. 245021374 c.1433A>G p.N478S missense 0.00007421●●●●●●
27. 245021029 c.1495-10_1495-6delTTTTC splice site 0.00005792●●●●●●
28. 245021488 c.1319C>A p.A440D missense 0.00005769●●●●●●
29. 245026035 c.692-3T>C splice site 0.00005768●●●●●●
30. 245025765 c.875C>T p.T292I missense 0.00005768●●●●●●
31. 245027548 c.62A>G p.K21R missense 0.00005410●●●●●●
32. 245026927 c.683C>G p.P228R missense 0.00005355●●●●●●
33. 245027349 c.261_263delGGA p.Glu90del inframe 0.00005293●●●●●●
34. 245026967 c.643_645delAAG p.Lys215del inframe 0.00005147●●●●●●
35. 245026940 c.670C>G p.R224G missense 0.00005126●●●●●●
36. 245022683 c.1018-7C>T splice site 0.00005027●●●●●●
37. 245027404 c.206G>C p.R69P missense 0.00005007●●●●●●
38. 245027340 c.270_275delAGAGGA p.Glu91_Glu92del inframe 0.00004979●●●●●●
39. 245018324 c.2375A>G p.N792S missense 0.00004945●●●●●●
40. 245022613 c.1081A>G p.I361V missense 0.00004945●●●●●●
41. 245020026 c.1743+4C>T splice site 0.00004141●●●●●●
42. 245027028 c.582C>G p.F194L missense 0.00004054●●●●●●
43. 245026930 c.680C>T p.A227V missense 0.00003525●●●●●●
44. 245026966 c.644A>C p.K215T missense 0.00003453●●●●●●
45. 245026939 c.671G>A p.R224H missense 0.00003439●●●●●●
46. 245021548 c.1259C>T p.S420L missense 0.00003314●●●●●●
47. 245018851 c.2227G>A p.G743S missense 0.00003296●●●●●●
48. 245019235 c.2138A>G p.N713S missense 0.00003295●●●●●●
49. 245027471 c.139G>T p.A47S missense 0.00002798●●●●●●
50. 245027594 c.16G>A p.V6I missense 0.00002579●●●●●●
51. 245022105 c.1156A>G p.I386V missense 0.00002521●●●●●●
52. 245019467 c.1913-7C>G splice site 0.00002516●●●●●●
53. 245021536 c.1271A>G p.N424S missense 0.00002479●●●●●●
54. 245021519 c.1288G>A p.V430I missense 0.00002475●●●●●●
55. 245021402 c.1405A>G p.I469V missense 0.00002473●●●●●●
56. 245025803 c.837A>T p.E279D missense 0.00002471●●●●●●
57. 245025843 c.804-7C>G splice site 0.00002471●●●●●●
58. 245027028 c.582C>A p.F194L missense 0.00002027●●●●●●
59. 245027002 c.608C>A p.A203E missense 0.00002021●●●●●●
60. 245027008 c.602C>T p.P201L missense 0.00002021●●●●●●
61. 245027027 c.583G>A p.A195T missense 0.00002020●●●●●●
62. 245023784 c.878-8_878-6delAAT splice site 0.00002006●●●●●●
63. 245027003 c.607G>A p.A203T missense 0.00002002●●●●●●
64. 245027045 c.565G>A p.G189S missense 0.00001965●●●●●●
65. 245027332 c.278_279insGGAGGA p.Glu93_Glu94dup inframe 0.00001933●●●●●●
66. 245026993 c.617G>C p.G206A missense 0.00001929●●●●●●
67. 245026994 c.616G>A p.G206S missense 0.00001919●●●●●●
68. 245027057 c.553G>A p.G185R missense 0.00001884●●●●●●
69. 245022023 c.1230+8A>T splice site 0.00001844●●●●●●
70. 245027293 c.317T>C p.L106P missense 0.00001775●●●●●●
71. 245027068 c.542A>C p.K181T missense 0.00001755●●●●●●
72. 245027171 c.439G>A p.D147N missense 0.00001724●●●●●●
73. 245026958 c.652G>A p.G218S missense 0.00001722●●●●●●
74. 245027236 c.374_376dupAGG p.Glu125dup inframe 0.00001713●●●●●●
75. 245026961 c.649G>A p.E217K missense 0.00001702●●●●●●
76. 245027221 c.389A>G p.D130G missense 0.00001700●●●●●●
77. 245018913 c.2168-3dupT splice site 0.00001658●●●●●●
78. 245027425 c.185T>C p.L62P missense 0.00001656●●●●●●
79. 245017812 c.2425-7C>T splice site 0.00001655●●●●●●
80. 245018728 c.2350C>G p.Q784E missense 0.00001650●●●●●●
81. 245021386 c.1421C>T p.T474I missense 0.00001649●●●●●●
82. 245021486 c.1321G>A p.G441R missense 0.00001648●●●●●●
83. 245026039 c.692-7_692-6delGT splice site 0.00001648●●●●●●
84. 245026027 c.697G>A p.G233S missense 0.00001648●●●●●●
85. 245018763 c.2315A>G p.N772S missense 0.00001648●●●●●●
86. 245021488 c.1319C>G p.A440G missense 0.00001648●●●●●●
87. 245026036 c.692-4T>A splice site 0.00001648●●●●●●
88. 245027429 c.181G>A p.D61N missense 0.00001647●●●●●●
89. 245026001 c.723T>A p.D241E missense 0.00001647●●●●●●
90. 245025803 c.837_839delAGA p.Glu279del inframe 0.00001647●●●●●●
91. 245027431 c.179T>G p.L60R missense 0.00001644●●●●●●
92. 245027392 c.218G>T p.G73V missense 0.00001603●●●●●●
93. 245027080 c.530G>A p.R177H missense 0.00001583●●●●●●
94. 245027387 c.223G>C p.E75Q missense 0.00001568●●●●●●
95. 245027081 c.529C>G p.R177G missense 0.00001556●●●●●●
96. 245027453 c.157A>G p.M53V missense 0.00001517●●●●●●
97. 245027462 c.148C>T p.R50C missense 0.00001481●●●●●●
98. 245027087 c.523C>G p.Q175E missense 0.00001463●●●●●●
99. 245027478 c.132_134delCGA p.Asp44del inframe 0.00001373●●●●●●
100. 245027108 c.502A>T p.T168S missense 0.00001257●●●●●●
101. 245027110 c.500C>T p.A167V missense 0.00001253●●●●●●
102. 245027501 c.109C>G p.R37G missense 0.00001181●●●●●●
103. 245027122 c.488C>T p.P163L missense 0.00001108●●●●●●
104. 245027331 c.279_281delGGA p.Glu94del inframe 0.00000966●●●●●●
105. 245022149 c.1118-6T>C splice site 0.00000960●●●●●●
106. 245027324 c.286A>G p.I96V missense 0.00000951●●●●●●
107. 245023773 c.881A>G p.N294S missense 0.00000947●●●●●●
108. 245022023 c.1230+8A>G splice site 0.00000922●●●●●●
109. 245027549 c.61A>T p.K21X nonsense 0.00000899●●●●●●
110. 245022028 c.1230+3A>G splice site 0.00000896●●●●●●
111. 245027295 c.315G>T p.E105D missense 0.00000889●●●●●●
112. 245022031 c.1230T>C splice site 0.00000884●●●●●●
113. 245027159 c.451G>A p.G151S missense 0.00000879●●●●●●
114. 245027159 c.451G>T p.G151C missense 0.00000879●●●●●●
115. 245027261 c.349G>C p.D117H missense 0.00000875●●●●●●
116. 245022034 c.1227T>A p.F409L missense 0.00000873●●●●●●
117. 245027260 c.350A>G p.D117G missense 0.00000872●●●●●●
118. 245027258 c.352T>C p.S118P missense 0.00000870●●●●●●
119. 245027169 c.441C>G p.D147E missense 0.00000864●●●●●●
120. 245027602 c.8C>G p.S3C missense 0.00000861●●●●●●
121. 245027241 c.369G>C p.E123D missense 0.00000858●●●●●●
122. 245023758 c.896T>G p.F299C missense 0.00000856●●●●●●
123. 245027177 c.433C>T p.L145F missense 0.00000856●●●●●●
124. 245022045 c.1216A>G p.I406V missense 0.00000853●●●●●●
125. 245027230 c.380C>T p.A127V missense 0.00000853●●●●●●
126. 245027194 c.416A>T p.Q139L missense 0.00000848●●●●●●
127. 245027201 c.409G>C p.G137R missense 0.00000847●●●●●●
128. 245021573 c.1234T>G p.F412V missense 0.00000847●●●●●●
129. 245022114 c.1147C>A p.L383I missense 0.00000846●●●●●●
130. 245023750 c.904T>G p.S302A missense 0.00000844●●●●●●
131. 245021570 c.1237G>A p.E413K missense 0.00000843●●●●●●
132. 245021305 c.1494+8A>T splice site 0.00000841●●●●●●
133. 245021567 c.1240A>G p.S414G missense 0.00000840●●●●●●
134. 245021566 c.1241G>A p.S414N missense 0.00000839●●●●●●
135. 245022096 c.1165T>C p.C389R missense 0.00000837●●●●●●
136. 245022092 c.1169A>G p.N390S missense 0.00000836●●●●●●
137. 245022071 c.1190G>A p.G397E missense 0.00000836●●●●●●
138. 245022092 c.1169A>C p.N390T missense 0.00000836●●●●●●
139. 245022682 c.1018-6T>C splice site 0.00000836●●●●●●
140. 245021306 c.1494+7G>T splice site 0.00000832●●●●●●
141. 245023740 c.914G>A p.R305H missense 0.00000832●●●●●●
142. 245019451 c.1922C>T p.T641I missense 0.00000831●●●●●●
143. 245023654 c.1000G>A p.V334M missense 0.00000831●●●●●●
144. 245019451 c.1922C>G p.T641S missense 0.00000831●●●●●●
145. 245023654 c.1000G>C p.V334L missense 0.00000831●●●●●●
146. 245019931 c.1744-4A>T splice site 0.00000830●●●●●●
147. 245019932 c.1744-5delT splice site 0.00000830●●●●●●
148. 245022676 c.1018G>A p.V340I missense 0.00000830●●●●●●
149. 245023656 c.998A>C p.K333T missense 0.00000830●●●●●●
150. 245020022 c.1743+8G>A splice site 0.00000829●●●●●●
151. 245022672 c.1022C>T p.T341I missense 0.00000828●●●●●●
152. 245023663 c.991A>G p.K331E missense 0.00000828●●●●●●
153. 245018908 c.2170C>A p.P724T missense 0.00000828●●●●●●
154. 245020024 c.1743+6C>T splice site 0.00000828●●●●●●
155. 245021542 c.1265C>G p.A422G missense 0.00000827●●●●●●
156. 245021022 c.1495-3T>G splice site 0.00000827●●●●●●
157. 245018899 c.2179C>T p.R727C missense 0.00000827●●●●●●
158. 245017803 c.2427A>G splice site 0.00000827●●●●●●
159. 245021528 c.1279G>T p.D427Y missense 0.00000826●●●●●●
160. 245021013 c.1501A>G p.M501V missense 0.00000826●●●●●●
161. 245019804 c.1867G>A p.V623I missense 0.00000826●●●●●●
162. 245022570 c.1117+7C>T splice site 0.00000826●●●●●●
163. 245018869 c.2209C>T p.P737S missense 0.00000825●●●●●●
164. 245018877 c.2201G>C p.G734A missense 0.00000825●●●●●●
165. 245021515 c.1292C>G p.A431G missense 0.00000825●●●●●●
166. 245017756 c.2474_2476delATT p.Tyr825del nonsense 0.00000825●●●●●●
167. 245018737 c.2341A>G p.N781D missense 0.00000825●●●●●●
168. 245025752 c.877+11C>G splice site 0.00000825●●●●●●
169. 245023681 c.973G>A p.A325T missense 0.00000825●●●●●●
170. 245021522 c.1285G>A p.G429S missense 0.00000825●●●●●●
171. 245020992 c.1522G>A p.A508T missense 0.00000824●●●●●●
172. 245025978 c.746C>G p.P249R missense 0.00000824●●●●●●
173. 245025781 c.859G>A p.V287M missense 0.00000824●●●●●●
174. 245022595 c.1099A>G p.T367A missense 0.00000824●●●●●●
175. 245019236 c.2137A>C p.N713H missense 0.00000824●●●●●●
176. 245021489 c.1318G>T p.A440S missense 0.00000824●●●●●●
177. 245026031 c.693G>A splice site 0.00000824●●●●●●
178. 245018748 c.2330C>T p.P777L missense 0.00000824●●●●●●
179. 245021396 c.1411G>A p.E471K missense 0.00000824●●●●●●
180. 245019349 c.2024A>G p.K675R missense 0.00000824●●●●●●
181. 245020955 c.1559A>G p.E520G missense 0.00000824●●●●●●
182. 245025803 c.837_839dupAGA p.Glu279dup inframe 0.00000824●●●●●●
183. 245021419 c.1388A>C p.E463A missense 0.00000824●●●●●●
184. 245018826 c.2252A>G p.Y751C missense 0.00000824●●●●●●
185. 245018323 c.2376T>G p.N792K missense 0.00000824●●●●●●
186. 245025785 c.855C>G p.D285E missense 0.00000824●●●●●●
187. 245025984 c.740A>G p.K247R missense 0.00000824●●●●●●
188. 245021509 c.1298A>G p.K433R missense 0.00000824●●●●●●
189. 245019247 c.2126G>A p.R709H missense 0.00000824●●●●●●
190. 245018300 c.2399A>C p.Q800P missense 0.00000824●●●●●●
191. 245019382 c.1991A>C p.K664T missense 0.00000824●●●●●●
192. 245018845 c.2233G>C p.G745R missense 0.00000824●●●●●●
193. 245026018 c.706_707delGA p.Glu236ThrfsTer6 frameshift 0.00000824●●●●●●
194. 245021449 c.1358G>C p.C453S missense 0.00000824●●●●●●
195. 245025933 c.791A>G p.N264S missense 0.00000824●●●●●●
196. 245019301 c.2072A>G p.N691S missense 0.00000824●●●●●●
197. 245018782 c.2296T>C p.S766P missense 0.00000824●●●●●●
198. 245025800 c.840_842delTGA p.Asp280del inframe 0.00000824●●●●●●
199. 245018303 c.2396C>T p.S799F missense 0.00000824●●●●●●
200. 245021413 c.1394C>T p.P465L missense 0.00000824●●●●●●
201. 245018865 c.2213A>C p.Q738P missense 0.00000824●●●●●●
202. 245025917 c.803+4T>C splice site 0.00000824●●●●●●
203. 245018325 c.2374A>C p.N792H missense 0.00000824●●●●●●
204. 245018333 c.2366G>A p.R789Q missense 0.00000824●●●●●●
205. 245019346 c.2027C>T p.A676V missense 0.00000824●●●●●●
206. 245026023 c.701A>G p.K234R missense 0.00000824●●●●●●
207. 245019304 c.2069G>A p.S690N missense 0.00000824●●●●●●
208. 245019279 c.2094C>G p.N698K missense 0.00000824●●●●●●
209. 245021410 c.1397A>C p.Y466S missense 0.00000824●●●●●●
210. 245018793 c.2285G>A p.R762H missense 0.00000824●●●●●●
211. 245018310 c.2389A>T p.N797Y 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.