KLF10 missense variants in ExAC


The table below lists the KLF10 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 frequencyPopulations*
1. 103667818 c.12C>A p.F4L missense 0.00000837
2. 103667817 c.13G>C p.G5R missense 0.00000837
3. 103667811 c.19T>G p.S7A missense 0.00000835
4. 103667805 c.25C>A p.Q9K missense 0.00000833
5. 103667801 c.29A>G p.Q10R missense 0.00000832
6. 103667800 c.30G>C p.Q10H missense 0.00118127
7. 103667799 c.31A>C p.T11P missense 0.00000832
8. 103667795 c.35C>A p.A12E missense 0.00000831
9. 103664611 c.51A>T p.E17D missense 0.00000832
10. 103664609 c.53T>C p.M18T missense 0.00001661
11. 103664608 c.54G>A p.M18I missense 0.00000830
12. 103664604 c.58T>C p.S20P missense 0.00000828
13. 103664594 c.68C>T p.P23L missense 0.00000826
14. 103664582 c.80T>C p.M27T missense 0.00008244
15. 103664576 c.86C>A p.S29Y missense 0.00000824
16. 103664574 c.88T>C p.W30R missense 0.00000824
17. 103664559 c.103G>A p.E35K missense 0.00000824
18. 103664538 c.124G>A p.V42I missense 0.00000824
19. 103664526 c.136A>G p.M46V missense 0.00000824
20. 103664525 c.137T>C p.M46T missense 0.00002471
21. 103664506 c.156G>C p.W52C missense 0.00000824
22. 103664488 c.174A>C p.K58N missense 0.00004943
23. 103664484 c.178G>T p.V60F missense 0.00014830
24. 103664469 c.193G>A p.V65I missense 0.00000824
25. 103664456 c.206C>G p.S69C missense 0.00001648
26. 103664442 c.220G>A p.E74K missense 0.00000824
27. 103664426 c.236C>T p.P79L missense 0.00002477
28. 103664412 c.250T>G p.F84V missense 0.00000829
29. 103664408 c.254A>C p.H85P missense 0.00000831
30. 103664400 c.262C>T p.P88S missense 0.00000836
31. 103664273 c.287A>G p.Y96C missense 0.00000854
32. 103664253 c.307C>T p.P103S missense 0.00000848
33. 103664249 c.311C>T p.S104F missense 0.00001694
34. 103664231 c.329T>A p.M110K missense 0.00001688
35. 103664230 c.330G>A p.M110I missense 0.00000844
36. 103664228 c.332C>T p.A111V missense 0.00000843
37. 103664226 c.334C>T p.P112S missense 0.00021916
38. 103664223 c.337G>C p.A113P missense 0.00004214
39. 103664222 c.338C>T p.A113V missense 0.00000842
40. 103664211 c.349G>A p.V117I missense 0.00000841
41. 103664183 c.377C>T p.A126V missense 0.00000839
42. 103664183 c.377C>G p.A126G missense 0.00001678
43. 103664181 c.379A>C p.K127Q missense 0.00000839
44. 103664177 c.383C>T p.P128L missense 0.00000838
45. 103664174 c.386A>T p.H129L missense 0.00005031
46. 103664168 c.392C>A p.A131D missense 0.00001677
47. 103664166 c.394G>A p.A132T missense 0.00007542
48. 103664157 c.403A>G p.K135E missense 0.00000838
49. 103664151 c.409G>A p.E137K missense 0.00001674
50. 103664144 c.416A>G p.K139R missense 0.00003344
51. 103664140 c.420C>A p.S140R missense 0.00001671
52. 103664136 c.424G>A p.V142I missense 0.00000835
53. 103664129 c.431C>T p.A144V missense 0.00000833
54. 103664124 c.436A>G p.K146E missense 0.00007488
55. 103664109 c.451C>G p.Q151E missense 0.00000829
56. 103664105 c.455C>T p.A152V missense 0.00001657
57. 103664075 c.485C>T p.A162V missense 0.00000825
58. 103664073 c.487C>A p.Q163K missense 0.00000825
59. 103664064 c.496A>G p.N166D missense 0.00000825
60. 103664061 c.499C>T p.H167Y missense 0.00000824
61. 103664054 c.506C>G p.T169S missense 0.00001648
62. 103664054 c.506C>A p.T169N missense 0.00000824
63. 103664050 c.510C>G p.C170W missense 0.00000824
64. 103664039 c.521C>T p.A174V missense 0.00001648
65. 103664027 c.533T>C p.L178P missense 0.00000824
66. 103664021 c.539A>C p.Y180S missense 0.00000824
67. 103664015 c.545A>G p.N182S missense 0.00000824
68. 103664009 c.551C>A p.S184Y missense 0.00000824
69. 103664003 c.557G>T p.R186I missense 0.00221560
70. 103664003 c.557G>A p.R186K missense 0.00000824
71. 103663999 c.561A>T p.R187S missense 0.00015649
72. 103663994 c.566C>G p.T189S missense 0.00221560
73. 103663994 c.566C>T p.T189I missense 0.00000824
74. 103663992 c.568C>A p.H190N missense 0.00004118
75. 103663992 c.568C>T p.H190Y missense 0.00000824
76. 103663968 c.592A>G p.K198E missense 0.00001647
77. 103663958 c.602C>T p.P201L missense 0.00000824
78. 103663953 c.607G>T p.A203S missense 0.00009060
79. 103663950 c.610G>A p.A204T missense 0.00002471
80. 103663940 c.620C>T p.P207L missense 0.00000824
81. 103663925 c.635G>A p.C212Y missense 0.00001647
82. 103663914 c.646A>G p.T216A missense 0.00004942
83. 103663911 c.649G>A p.V217M missense 0.00004942
84. 103663904 c.656A>T p.D219V missense 0.00003295
85. 103663901 c.659T>C p.V220A missense 0.00002471
86. 103663899 c.661G>T p.D221Y missense 0.00001647
87. 103663886 c.674G>A p.S225N missense 0.00060953
88. 103663886 c.674G>C p.S225T missense 0.00000824
89. 103663875 c.685T>C p.Y229H missense 0.00000824
90. 103663870 c.690C>G p.D230E missense 0.00000824
91. 103663863 c.697G>A p.V233M missense 0.00004119
92. 103663847 c.713C>T p.T238M missense 0.00000824
93. 103663826 c.734C>T p.P245L missense 0.00000824
94. 103663823 c.737C>T p.A246V missense 0.00001648
95. 103663818 c.742G>C p.V248L missense 0.00000824
96. 103663814 c.746C>T p.S249F missense 0.01345894
97. 103663755 c.805C>T p.P269S missense 0.00014043
98. 103663713 c.847A>C p.N283H missense 0.00000828
99. 103663707 c.853G>A p.V285I missense 0.00001657
100. 103663701 c.859A>T p.T287S missense 0.00001658
101. 103663700 c.860C>G p.T287R missense 0.00000829
102. 103663692 c.868G>A p.V290I missense 0.00003319
103. 103663686 c.874A>G p.S292G missense 0.00001661
104. 103663682 c.878C>T p.T293I missense 0.00001661
105. 103663680 c.880C>T p.P294S missense 0.00002492
106. 103663672 c.888C>A p.S296R missense 0.00000832
107. 103663664 c.896C>A p.P299Q missense 0.00000834
108. 103663659 c.901G>A p.V301I missense 0.00000836
109. 103663650 c.910C>G p.P304A missense 0.00000840
110. 103663649 c.911C>A p.P304H missense 0.00003361
111. 103663646 c.914T>C p.V305A missense 0.00000842
112. 103663637 c.923T>G p.M308R missense 0.00000848
113. 103663619 c.941A>G p.K314R missense 0.00005143
114. 103663614 c.946G>A p.A316T missense 0.00080044
115. 103663587 c.973G>A p.V325I missense 0.00002602
116. 103663572 c.988A>G p.K330E missense 0.00000868
117. 103663566 c.994C>G p.P332A missense 0.00001736
118. 103663565 c.995C>T p.P332L missense 0.00003473
119. 103663560 c.1000G>A p.V334M missense 0.00000868
120. 103663556 c.1004G>T p.S335I missense 0.00000868
121. 103663556 c.1004G>C p.S335T missense 0.00000868
122. 103663553 c.1007C>T p.P336L missense 0.00000868
123. 103663547 c.1013G>A p.G338D missense 0.00000868
124. 103663535 c.1025C>T p.S342F missense 0.00000866
125. 103663517 c.1043C>T p.P348L missense 0.00006066
126. 103663514 c.1046G>A p.G349E missense 0.00000867
127. 103663497 c.1063G>T p.A355S missense 0.00007829
128. 103663484 c.1076C>A p.P359H missense 0.00000876
129. 103663473 c.1087T>G p.S363A missense 0.00022071
130. 103663470 c.1090T>A p.S364T missense 0.00000884
131. 103663457 c.1103G>A p.S368N missense 0.00000892
132. 103663440 c.1120C>T p.P374S missense 0.00000898
133. 103663439 c.1121C>T p.P374L missense 0.00000899
134. 103663431 c.1129G>A p.G377S missense 0.00000901
135. 103663400 c.1160A>C p.K387T missense 0.00000904
136. 103663391 c.1169C>T p.T390M missense 0.00005425
137. 103662568 c.1235G>A p.R412H missense 0.00000824
138. 103662504 c.1299G>A p.M433I missense 0.00000824
139. 103662496 c.1307G>A p.R436Q missense 0.00000824
140. 103662493 c.1310G>A p.R437Q missense 0.00000824
141. 103662458 c.1345C>G p.R449G missense 0.00000824
142. 103662457 c.1346G>A p.R449Q missense 0.00000824
143. 103662455 c.1348C>T p.R450C missense 0.00000824
144. 103662409 c.1394G>A p.S465N missense 0.00000824
145. 103662404 c.1399C>A p.L467I missense 0.00000824
146. 103662391 c.1412C>T p.A471V missense 0.00003297
147. 103662391 c.1412C>G p.A471G missense 0.00000824
148. 103662389 c.1414C>A p.L472I 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.