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

* 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.