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