KLF10 variants in ExAC

KLF10 gene summary
KLF10 variants in

The table below lists the KLF10 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. 103664582 c.80T>C p.M27T missense 0.00008244●●●●●●
2. 103664151 c.409G>A p.E137K missense 0.00001674●●●●●●
3. 103663950 c.610G>A p.A204T missense 0.00002471●●●●●●
4. 103663914 c.646A>G p.T216A missense 0.00004942●●●●●●
5. 103663886 c.674G>A p.S225N missense 0.00060953●●●●●●
6. 103663473 c.1087T>G p.S363A missense 0.00022071●●●●●●
7. 103663497 c.1063G>T p.A355S missense 0.00007829●●●●●●
8. 103663535 c.1025C>T p.S342F missense 0.00000866●●●●●●
9. 103663566 c.994C>G p.P332A missense 0.00001736●●●●●●
10. 103663614 c.946G>A p.A316T missense 0.00080044●●●●●●
11. 103663619 c.941A>G p.K314R missense 0.00005143●●●●●●
12. 103663692 c.868G>A p.V290I missense 0.00003319●●●●●●
13. 103663755 c.805C>T p.P269S missense 0.00014043●●●●●●
14. 103663814 c.746C>T p.S249F missense 0.01345894●●●●●●
15. 103663875 c.685T>C p.Y229H missense 0.00000824●●●●●●
16. 103663901 c.659T>C p.V220A missense 0.00002471●●●●●●
17. 103663992 c.568C>A p.H190N missense 0.00004118●●●●●●
18. 103663994 c.566C>G p.T189S missense 0.00221560●●●●●●
19. 103664003 c.557G>T p.R186I missense 0.00221560●●●●●●
20. 103664050 c.510C>G p.C170W missense 0.00000824●●●●●●
21. 103664129 c.431C>T p.A144V missense 0.00000833●●●●●●
22. 103664140 c.420C>A p.S140R missense 0.00001671●●●●●●
23. 103664174 c.386A>T p.H129L missense 0.00005031●●●●●●
24. 103664226 c.334C>T p.P112S missense 0.00021916●●●●●●
25. 103664488 c.174A>C p.K58N missense 0.00004943●●●●●●
26. 103667800 c.30G>C p.Q10H missense 0.00118127●●●●●●
27. 103663870 c.690C>G p.D230E missense 0.00000824●●●●●●
28. 103663940 c.620C>T p.P207L missense 0.00000824●●●●●●
29. 103664109 c.451C>G p.Q151E missense 0.00000829●●●●●●
30. 103664166 c.394G>A p.A132T missense 0.00007542●●●●●●
31. 103664442 c.220G>A p.E74K missense 0.00000824●●●●●●
32. 103664608 c.54G>A p.M18I missense 0.00000830●●●●●●
33. 103662504 c.1299G>A p.M433I missense 0.00000824●●●●●●
34. 103663391 c.1169C>T p.T390M missense 0.00005425●●●●●●
35. 103664228 c.332C>T p.A111V missense 0.00000843●●●●●●
36. 103664469 c.193G>A p.V65I missense 0.00000824●●●●●●
37. 103662389 c.1414C>A p.L472I missense 0.00000824●●●●●●
38. 103662391 c.1412C>T p.A471V missense 0.00003297●●●●●●
39. 103662391 c.1412C>G p.A471G missense 0.00000824●●●●●●
40. 103662404 c.1399C>A p.L467I missense 0.00000824●●●●●●
41. 103662409 c.1394G>A p.S465N missense 0.00000824●●●●●●
42. 103662455 c.1348C>T p.R450C missense 0.00000824●●●●●●
43. 103662457 c.1346G>A p.R449Q missense 0.00000824●●●●●●
44. 103662458 c.1345C>G p.R449G missense 0.00000824●●●●●●
45. 103662493 c.1310G>A p.R437Q missense 0.00000824●●●●●●
46. 103662496 c.1307G>A p.R436Q missense 0.00000824●●●●●●
47. 103662568 c.1235G>A p.R412H missense 0.00000824●●●●●●
48. 103663400 c.1160A>C p.K387T missense 0.00000904●●●●●●
49. 103663431 c.1129G>A p.G377S missense 0.00000901●●●●●●
50. 103663439 c.1121C>T p.P374L missense 0.00000899●●●●●●
51. 103663440 c.1120C>T p.P374S missense 0.00000898●●●●●●
52. 103663457 c.1103G>A p.S368N missense 0.00000892●●●●●●
53. 103663470 c.1090T>A p.S364T missense 0.00000884●●●●●●
54. 103663484 c.1076C>A p.P359H missense 0.00000876●●●●●●
55. 103663514 c.1046G>A p.G349E missense 0.00000867●●●●●●
56. 103663517 c.1043C>T p.P348L missense 0.00006066●●●●●●
57. 103663547 c.1013G>A p.G338D missense 0.00000868●●●●●●
58. 103663553 c.1007C>T p.P336L missense 0.00000868●●●●●●
59. 103663556 c.1004G>T p.S335I missense 0.00000868●●●●●●
60. 103663556 c.1004G>C p.S335T missense 0.00000868●●●●●●
61. 103663560 c.1000G>A p.V334M missense 0.00000868●●●●●●
62. 103663565 c.995C>T p.P332L missense 0.00003473●●●●●●
63. 103663572 c.988A>G p.K330E missense 0.00000868●●●●●●
64. 103663587 c.973G>A p.V325I missense 0.00002602●●●●●●
65. 103663637 c.923T>G p.M308R missense 0.00000848●●●●●●
66. 103663646 c.914T>C p.V305A missense 0.00000842●●●●●●
67. 103663649 c.911C>A p.P304H missense 0.00003361●●●●●●
68. 103663650 c.910C>G p.P304A missense 0.00000840●●●●●●
69. 103663659 c.901G>A p.V301I missense 0.00000836●●●●●●
70. 103663664 c.896C>A p.P299Q missense 0.00000834●●●●●●
71. 103663672 c.888C>A p.S296R missense 0.00000832●●●●●●
72. 103663680 c.880C>T p.P294S missense 0.00002492●●●●●●
73. 103663682 c.878C>T p.T293I missense 0.00001661●●●●●●
74. 103663686 c.874A>G p.S292G missense 0.00001661●●●●●●
75. 103663700 c.860C>G p.T287R missense 0.00000829●●●●●●
76. 103663701 c.859A>T p.T287S missense 0.00001658●●●●●●
77. 103663707 c.853G>A p.V285I missense 0.00001657●●●●●●
78. 103663713 c.847A>C p.N283H missense 0.00000828●●●●●●
79. 103663818 c.742G>C p.V248L missense 0.00000824●●●●●●
80. 103663823 c.737C>T p.A246V missense 0.00001648●●●●●●
81. 103663826 c.734C>T p.P245L missense 0.00000824●●●●●●
82. 103663847 c.713C>T p.T238M missense 0.00000824●●●●●●
83. 103663863 c.697G>A p.V233M missense 0.00004119●●●●●●
84. 103663886 c.674G>C p.S225T missense 0.00000824●●●●●●
85. 103663899 c.661G>T p.D221Y missense 0.00001647●●●●●●
86. 103663904 c.656A>T p.D219V missense 0.00003295●●●●●●
87. 103663911 c.649G>A p.V217M missense 0.00004942●●●●●●
88. 103663925 c.635G>A p.C212Y missense 0.00001647●●●●●●
89. 103663953 c.607G>T p.A203S missense 0.00009060●●●●●●
90. 103663958 c.602C>T p.P201L missense 0.00000824●●●●●●
91. 103663968 c.592A>G p.K198E missense 0.00001647●●●●●●
92. 103663992 c.568C>T p.H190Y missense 0.00000824●●●●●●
93. 103663994 c.566C>T p.T189I missense 0.00000824●●●●●●
94. 103663999 c.561A>T p.R187S missense 0.00015649●●●●●●
95. 103664003 c.557G>A p.R186K missense 0.00000824●●●●●●
96. 103664009 c.551C>A p.S184Y missense 0.00000824●●●●●●
97. 103664015 c.545A>G p.N182S missense 0.00000824●●●●●●
98. 103664021 c.539A>C p.Y180S missense 0.00000824●●●●●●
99. 103664027 c.533T>C p.L178P missense 0.00000824●●●●●●
100. 103664039 c.521C>T p.A174V missense 0.00001648●●●●●●
101. 103664054 c.506C>G p.T169S missense 0.00001648●●●●●●
102. 103664054 c.506C>A p.T169N missense 0.00000824●●●●●●
103. 103664061 c.499C>T p.H167Y missense 0.00000824●●●●●●
104. 103664064 c.496A>G p.N166D missense 0.00000825●●●●●●
105. 103664073 c.487C>A p.Q163K missense 0.00000825●●●●●●
106. 103664075 c.485C>T p.A162V missense 0.00000825●●●●●●
107. 103664105 c.455C>T p.A152V missense 0.00001657●●●●●●
108. 103664124 c.436A>G p.K146E missense 0.00007488●●●●●●
109. 103664136 c.424G>A p.V142I missense 0.00000835●●●●●●
110. 103664144 c.416A>G p.K139R missense 0.00003344●●●●●●
111. 103664157 c.403A>G p.K135E missense 0.00000838●●●●●●
112. 103664168 c.392C>A p.A131D missense 0.00001677●●●●●●
113. 103664177 c.383C>T p.P128L missense 0.00000838●●●●●●
114. 103664181 c.379A>C p.K127Q missense 0.00000839●●●●●●
115. 103664183 c.377C>T p.A126V missense 0.00000839●●●●●●
116. 103664183 c.377C>G p.A126G missense 0.00001678●●●●●●
117. 103664211 c.349G>A p.V117I missense 0.00000841●●●●●●
118. 103664222 c.338C>T p.A113V missense 0.00000842●●●●●●
119. 103664223 c.337G>C p.A113P missense 0.00004214●●●●●●
120. 103664230 c.330G>A p.M110I missense 0.00000844●●●●●●
121. 103664231 c.329T>A p.M110K missense 0.00001688●●●●●●
122. 103664249 c.311C>T p.S104F missense 0.00001694●●●●●●
123. 103664253 c.307C>T p.P103S missense 0.00000848●●●●●●
124. 103664273 c.287A>G p.Y96C missense 0.00000854●●●●●●
125. 103664400 c.262C>T p.P88S missense 0.00000836●●●●●●
126. 103664408 c.254A>C p.H85P missense 0.00000831●●●●●●
127. 103664412 c.250T>G p.F84V missense 0.00000829●●●●●●
128. 103664426 c.236C>T p.P79L missense 0.00002477●●●●●●
129. 103664456 c.206C>G p.S69C missense 0.00001648●●●●●●
130. 103664484 c.178G>T p.V60F missense 0.00014830●●●●●●
131. 103664506 c.156G>C p.W52C missense 0.00000824●●●●●●
132. 103664525 c.137T>C p.M46T missense 0.00002471●●●●●●
133. 103664526 c.136A>G p.M46V missense 0.00000824●●●●●●
134. 103664538 c.124G>A p.V42I missense 0.00000824●●●●●●
135. 103664559 c.103G>A p.E35K missense 0.00000824●●●●●●
136. 103664574 c.88T>C p.W30R missense 0.00000824●●●●●●
137. 103664576 c.86C>A p.S29Y missense 0.00000824●●●●●●
138. 103664594 c.68C>T p.P23L missense 0.00000826●●●●●●
139. 103664604 c.58T>C p.S20P missense 0.00000828●●●●●●
140. 103664609 c.53T>C p.M18T missense 0.00001661●●●●●●
141. 103664611 c.51A>T p.E17D missense 0.00000832●●●●●●
142. 103667795 c.35C>A p.A12E missense 0.00000831●●●●●●
143. 103667799 c.31A>C p.T11P missense 0.00000832●●●●●●
144. 103667801 c.29A>G p.Q10R missense 0.00000832●●●●●●
145. 103667805 c.25C>A p.Q9K missense 0.00000833●●●●●●
146. 103667811 c.19T>G p.S7A missense 0.00000835●●●●●●
147. 103667817 c.13G>C p.G5R missense 0.00000837●●●●●●
148. 103667818 c.12C>A p.F4L missense 0.00000837●●●●●●
149. 103662423 c.1380G>A p.W460X nonsense 0.00001647●●●●●●
150. 103667805 c.25C>T p.Q9X nonsense 0.00000833●●●●●●
151. 103662361 c.1442G>A nonsense 0.00000829●●●●●●
152. 103664384 c.270+8T>G splice site 0.00006952●●●●●●
153. 103662628 c.1184-9_1184-8delTT splice site 0.00000847●●●●●●
154. 103664295 c.271-6C>T splice site 0.00000870●●●●●●
155. 103667786 c.36+8A>C splice site 0.00000830●●●●●●
156. 103667787 c.36+7C>A splice site 0.00000830●●●●●●
157. 103667787 c.36+7C>T splice site 0.00000830●●●●●●
158. 103667793 c.36+1G>C essential splice site 0.00000831●●●●●●
159. 103667792 c.36+2T>C essential splice site 0.00000831●●●●●●
160. 103667793 c.36+1G>A essential splice site 0.00000831●●●●●●
161. 103663649 c.911delC p.Pro304LeufsTer31 frameshift 0.00000841●●●●●●
162. 103664254 c.306delA p.Glu102AspfsTer8 frameshift 0.00000848●●●●●●
163. 103663997 c.563_565delGAA p.R188_T189delinsT inframe 0.00002471●●●●●●

* 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.