HNRNPU missense variants in ExAC

HNRNPU gene summary
HNRNPU variants in

The table below lists the HNRNPU 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. 245019290 c.2083A>G p.S695G missense 0.00027184●●●●●●
2. 245027527 c.83A>G p.K28R missense 0.00022810●●●●●●
3. 245021539 c.1268A>G p.K423R missense 0.00017361●●●●●●
4. 245022053 c.1208A>C p.N403T missense 0.00013510●●●●●●
5. 245027152 c.458G>A p.G153D missense 0.00011795●●●●●●
6. 245021533 c.1274G>C p.G425A missense 0.00011564●●●●●●
7. 245027387 c.223G>A p.E75K missense 0.00010976●●●●●●
8. 245021347 c.1460G>C p.G487A missense 0.00010738●●●●●●
9. 245027464 c.146G>A p.G49D missense 0.00010465●●●●●●
10. 245020971 c.1543A>G p.T515A missense 0.00009888●●●●●●
11. 245027236 c.374A>C p.E125A missense 0.00009457●●●●●●
12. 245027235 c.375G>C p.E125D missense 0.00008592●●●●●●
13. 245019861 c.1810G>A p.V604I missense 0.00008267●●●●●●
14. 245019421 c.1952A>C p.E651A missense 0.00007433●●●●●●
15. 245021374 c.1433A>G p.N478S missense 0.00007421●●●●●●
16. 245021488 c.1319C>A p.A440D missense 0.00005769●●●●●●
17. 245025765 c.875C>T p.T292I missense 0.00005768●●●●●●
18. 245027548 c.62A>G p.K21R missense 0.00005410●●●●●●
19. 245026927 c.683C>G p.P228R missense 0.00005355●●●●●●
20. 245026940 c.670C>G p.R224G missense 0.00005126●●●●●●
21. 245027404 c.206G>C p.R69P missense 0.00005007●●●●●●
22. 245018324 c.2375A>G p.N792S missense 0.00004945●●●●●●
23. 245022613 c.1081A>G p.I361V missense 0.00004945●●●●●●
24. 245027028 c.582C>G p.F194L missense 0.00004054●●●●●●
25. 245026930 c.680C>T p.A227V missense 0.00003525●●●●●●
26. 245026966 c.644A>C p.K215T missense 0.00003453●●●●●●
27. 245026939 c.671G>A p.R224H missense 0.00003439●●●●●●
28. 245021548 c.1259C>T p.S420L missense 0.00003314●●●●●●
29. 245018851 c.2227G>A p.G743S missense 0.00003296●●●●●●
30. 245019235 c.2138A>G p.N713S missense 0.00003295●●●●●●
31. 245027471 c.139G>T p.A47S missense 0.00002798●●●●●●
32. 245027594 c.16G>A p.V6I missense 0.00002579●●●●●●
33. 245022105 c.1156A>G p.I386V missense 0.00002521●●●●●●
34. 245021536 c.1271A>G p.N424S missense 0.00002479●●●●●●
35. 245021519 c.1288G>A p.V430I missense 0.00002475●●●●●●
36. 245021402 c.1405A>G p.I469V missense 0.00002473●●●●●●
37. 245025803 c.837A>T p.E279D missense 0.00002471●●●●●●
38. 245027028 c.582C>A p.F194L missense 0.00002027●●●●●●
39. 245027002 c.608C>A p.A203E missense 0.00002021●●●●●●
40. 245027008 c.602C>T p.P201L missense 0.00002021●●●●●●
41. 245027027 c.583G>A p.A195T missense 0.00002020●●●●●●
42. 245027003 c.607G>A p.A203T missense 0.00002002●●●●●●
43. 245027045 c.565G>A p.G189S missense 0.00001965●●●●●●
44. 245026993 c.617G>C p.G206A missense 0.00001929●●●●●●
45. 245026994 c.616G>A p.G206S missense 0.00001919●●●●●●
46. 245027057 c.553G>A p.G185R missense 0.00001884●●●●●●
47. 245027293 c.317T>C p.L106P missense 0.00001775●●●●●●
48. 245027068 c.542A>C p.K181T missense 0.00001755●●●●●●
49. 245027171 c.439G>A p.D147N missense 0.00001724●●●●●●
50. 245026958 c.652G>A p.G218S missense 0.00001722●●●●●●
51. 245026961 c.649G>A p.E217K missense 0.00001702●●●●●●
52. 245027221 c.389A>G p.D130G missense 0.00001700●●●●●●
53. 245027425 c.185T>C p.L62P missense 0.00001656●●●●●●
54. 245018728 c.2350C>G p.Q784E missense 0.00001650●●●●●●
55. 245021386 c.1421C>T p.T474I missense 0.00001649●●●●●●
56. 245021488 c.1319C>G p.A440G missense 0.00001648●●●●●●
57. 245018763 c.2315A>G p.N772S missense 0.00001648●●●●●●
58. 245021486 c.1321G>A p.G441R missense 0.00001648●●●●●●
59. 245026027 c.697G>A p.G233S missense 0.00001648●●●●●●
60. 245027429 c.181G>A p.D61N missense 0.00001647●●●●●●
61. 245026001 c.723T>A p.D241E missense 0.00001647●●●●●●
62. 245027431 c.179T>G p.L60R missense 0.00001644●●●●●●
63. 245027392 c.218G>T p.G73V missense 0.00001603●●●●●●
64. 245027080 c.530G>A p.R177H missense 0.00001583●●●●●●
65. 245027387 c.223G>C p.E75Q missense 0.00001568●●●●●●
66. 245027081 c.529C>G p.R177G missense 0.00001556●●●●●●
67. 245027453 c.157A>G p.M53V missense 0.00001517●●●●●●
68. 245027462 c.148C>T p.R50C missense 0.00001481●●●●●●
69. 245027087 c.523C>G p.Q175E missense 0.00001463●●●●●●
70. 245027108 c.502A>T p.T168S missense 0.00001257●●●●●●
71. 245027110 c.500C>T p.A167V missense 0.00001253●●●●●●
72. 245027501 c.109C>G p.R37G missense 0.00001181●●●●●●
73. 245027122 c.488C>T p.P163L missense 0.00001108●●●●●●
74. 245027324 c.286A>G p.I96V missense 0.00000951●●●●●●
75. 245023773 c.881A>G p.N294S missense 0.00000947●●●●●●
76. 245027295 c.315G>T p.E105D missense 0.00000889●●●●●●
77. 245027159 c.451G>A p.G151S missense 0.00000879●●●●●●
78. 245027159 c.451G>T p.G151C missense 0.00000879●●●●●●
79. 245027261 c.349G>C p.D117H missense 0.00000875●●●●●●
80. 245022034 c.1227T>A p.F409L missense 0.00000873●●●●●●
81. 245027260 c.350A>G p.D117G missense 0.00000872●●●●●●
82. 245027258 c.352T>C p.S118P missense 0.00000870●●●●●●
83. 245027169 c.441C>G p.D147E missense 0.00000864●●●●●●
84. 245027602 c.8C>G p.S3C missense 0.00000861●●●●●●
85. 245027241 c.369G>C p.E123D missense 0.00000858●●●●●●
86. 245023758 c.896T>G p.F299C missense 0.00000856●●●●●●
87. 245027177 c.433C>T p.L145F missense 0.00000856●●●●●●
88. 245022045 c.1216A>G p.I406V missense 0.00000853●●●●●●
89. 245027230 c.380C>T p.A127V missense 0.00000853●●●●●●
90. 245027194 c.416A>T p.Q139L missense 0.00000848●●●●●●
91. 245027201 c.409G>C p.G137R missense 0.00000847●●●●●●
92. 245021573 c.1234T>G p.F412V missense 0.00000847●●●●●●
93. 245022114 c.1147C>A p.L383I missense 0.00000846●●●●●●
94. 245023750 c.904T>G p.S302A missense 0.00000844●●●●●●
95. 245021570 c.1237G>A p.E413K missense 0.00000843●●●●●●
96. 245021567 c.1240A>G p.S414G missense 0.00000840●●●●●●
97. 245021566 c.1241G>A p.S414N missense 0.00000839●●●●●●
98. 245022096 c.1165T>C p.C389R missense 0.00000837●●●●●●
99. 245022071 c.1190G>A p.G397E missense 0.00000836●●●●●●
100. 245022092 c.1169A>G p.N390S missense 0.00000836●●●●●●
101. 245022092 c.1169A>C p.N390T missense 0.00000836●●●●●●
102. 245023740 c.914G>A p.R305H missense 0.00000832●●●●●●
103. 245019451 c.1922C>T p.T641I missense 0.00000831●●●●●●
104. 245023654 c.1000G>C p.V334L missense 0.00000831●●●●●●
105. 245023654 c.1000G>A p.V334M missense 0.00000831●●●●●●
106. 245019451 c.1922C>G p.T641S missense 0.00000831●●●●●●
107. 245023656 c.998A>C p.K333T missense 0.00000830●●●●●●
108. 245022676 c.1018G>A p.V340I missense 0.00000830●●●●●●
109. 245018908 c.2170C>A p.P724T missense 0.00000828●●●●●●
110. 245023663 c.991A>G p.K331E missense 0.00000828●●●●●●
111. 245022672 c.1022C>T p.T341I missense 0.00000828●●●●●●
112. 245021542 c.1265C>G p.A422G missense 0.00000827●●●●●●
113. 245018899 c.2179C>T p.R727C missense 0.00000827●●●●●●
114. 245021013 c.1501A>G p.M501V missense 0.00000826●●●●●●
115. 245019804 c.1867G>A p.V623I missense 0.00000826●●●●●●
116. 245021528 c.1279G>T p.D427Y missense 0.00000826●●●●●●
117. 245023681 c.973G>A p.A325T missense 0.00000825●●●●●●
118. 245018869 c.2209C>T p.P737S missense 0.00000825●●●●●●
119. 245021522 c.1285G>A p.G429S missense 0.00000825●●●●●●
120. 245018877 c.2201G>C p.G734A missense 0.00000825●●●●●●
121. 245021515 c.1292C>G p.A431G missense 0.00000825●●●●●●
122. 245018737 c.2341A>G p.N781D missense 0.00000825●●●●●●
123. 245025984 c.740A>G p.K247R missense 0.00000824●●●●●●
124. 245021396 c.1411G>A p.E471K missense 0.00000824●●●●●●
125. 245020992 c.1522G>A p.A508T missense 0.00000824●●●●●●
126. 245018793 c.2285G>A p.R762H missense 0.00000824●●●●●●
127. 245021413 c.1394C>T p.P465L missense 0.00000824●●●●●●
128. 245019304 c.2069G>A p.S690N missense 0.00000824●●●●●●
129. 245018323 c.2376T>G p.N792K missense 0.00000824●●●●●●
130. 245018865 c.2213A>C p.Q738P missense 0.00000824●●●●●●
131. 245025785 c.855C>G p.D285E missense 0.00000824●●●●●●
132. 245018748 c.2330C>T p.P777L missense 0.00000824●●●●●●
133. 245019279 c.2094C>G p.N698K missense 0.00000824●●●●●●
134. 245021410 c.1397A>C p.Y466S missense 0.00000824●●●●●●
135. 245019349 c.2024A>G p.K675R missense 0.00000824●●●●●●
136. 245021489 c.1318G>T p.A440S missense 0.00000824●●●●●●
137. 245025933 c.791A>G p.N264S missense 0.00000824●●●●●●
138. 245020955 c.1559A>G p.E520G missense 0.00000824●●●●●●
139. 245019236 c.2137A>C p.N713H missense 0.00000824●●●●●●
140. 245018826 c.2252A>G p.Y751C missense 0.00000824●●●●●●
141. 245026023 c.701A>G p.K234R missense 0.00000824●●●●●●
142. 245021419 c.1388A>C p.E463A missense 0.00000824●●●●●●
143. 245018300 c.2399A>C p.Q800P missense 0.00000824●●●●●●
144. 245022595 c.1099A>G p.T367A missense 0.00000824●●●●●●
145. 245019382 c.1991A>C p.K664T missense 0.00000824●●●●●●
146. 245018325 c.2374A>C p.N792H missense 0.00000824●●●●●●
147. 245025978 c.746C>G p.P249R missense 0.00000824●●●●●●
148. 245018782 c.2296T>C p.S766P missense 0.00000824●●●●●●
149. 245019247 c.2126G>A p.R709H missense 0.00000824●●●●●●
150. 245019301 c.2072A>G p.N691S missense 0.00000824●●●●●●
151. 245018310 c.2389A>T p.N797Y missense 0.00000824●●●●●●
152. 245018845 c.2233G>C p.G745R missense 0.00000824●●●●●●
153. 245021449 c.1358G>C p.C453S missense 0.00000824●●●●●●
154. 245018303 c.2396C>T p.S799F missense 0.00000824●●●●●●
155. 245019346 c.2027C>T p.A676V missense 0.00000824●●●●●●
156. 245025781 c.859G>A p.V287M missense 0.00000824●●●●●●
157. 245021509 c.1298A>G p.K433R missense 0.00000824●●●●●●
158. 245018333 c.2366G>A p.R789Q 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.