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. 103664525 c.137T>C p.M46T missense 0.00002471●●●●●●
39. 103663901 c.659T>C p.V220A missense 0.00002471●●●●●●
40. 103663997 c.563_565delGAA p.R188_T189delinsT inframe 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. 103664609 c.53T>C p.M18T missense 0.00001661●●●●●●
50. 103663686 c.874A>G p.S292G missense 0.00001661●●●●●●
51. 103663701 c.859A>T p.T287S missense 0.00001658●●●●●●
52. 103664105 c.455C>T p.A152V missense 0.00001657●●●●●●
53. 103663707 c.853G>A p.V285I missense 0.00001657●●●●●●
54. 103664054 c.506C>G p.T169S missense 0.00001648●●●●●●
55. 103664456 c.206C>G p.S69C missense 0.00001648●●●●●●
56. 103664039 c.521C>T p.A174V missense 0.00001648●●●●●●
57. 103663823 c.737C>T p.A246V missense 0.00001648●●●●●●
58. 103663968 c.592A>G p.K198E missense 0.00001647●●●●●●
59. 103662423 c.1380G>A p.W460X nonsense 0.00001647●●●●●●
60. 103663899 c.661G>T p.D221Y missense 0.00001647●●●●●●
61. 103663925 c.635G>A p.C212Y 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. 103663560 c.1000G>A p.V334M missense 0.00000868●●●●●●
71. 103663553 c.1007C>T p.P336L missense 0.00000868●●●●●●
72. 103663556 c.1004G>T p.S335I missense 0.00000868●●●●●●
73. 103663572 c.988A>G p.K330E missense 0.00000868●●●●●●
74. 103663556 c.1004G>C p.S335T missense 0.00000868●●●●●●
75. 103663547 c.1013G>A p.G338D 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. 103664254 c.306delA p.Glu102AspfsTer8 frameshift 0.00000848●●●●●●
81. 103664253 c.307C>T p.P103S missense 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. 103664222 c.338C>T p.A113V missense 0.00000842●●●●●●
86. 103663646 c.914T>C p.V305A missense 0.00000842●●●●●●
87. 103663649 c.911delC p.Pro304LeufsTer31 frameshift 0.00000841●●●●●●
88. 103664211 c.349G>A p.V117I missense 0.00000841●●●●●●
89. 103663650 c.910C>G p.P304A missense 0.00000840●●●●●●
90. 103664183 c.377C>T p.A126V missense 0.00000839●●●●●●
91. 103664181 c.379A>C p.K127Q missense 0.00000839●●●●●●
92. 103664177 c.383C>T p.P128L missense 0.00000838●●●●●●
93. 103664157 c.403A>G p.K135E missense 0.00000838●●●●●●
94. 103667817 c.13G>C p.G5R missense 0.00000837●●●●●●
95. 103667818 c.12C>A p.F4L missense 0.00000837●●●●●●
96. 103664400 c.262C>T p.P88S missense 0.00000836●●●●●●
97. 103663659 c.901G>A p.V301I 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. 103667805 c.25C>A p.Q9K missense 0.00000833●●●●●●
102. 103664129 c.431C>T p.A144V missense 0.00000833●●●●●●
103. 103667805 c.25C>T p.Q9X nonsense 0.00000833●●●●●●
104. 103664611 c.51A>T p.E17D missense 0.00000832●●●●●●
105. 103663672 c.888C>A p.S296R missense 0.00000832●●●●●●
106. 103667799 c.31A>C p.T11P missense 0.00000832●●●●●●
107. 103667801 c.29A>G p.Q10R missense 0.00000832●●●●●●
108. 103667795 c.35C>A p.A12E missense 0.00000831●●●●●●
109. 103664408 c.254A>C p.H85P missense 0.00000831●●●●●●
110. 103667792 c.36+2T>C essential splice site 0.00000831●●●●●●
111. 103667793 c.36+1G>A essential splice site 0.00000831●●●●●●
112. 103667793 c.36+1G>C essential splice site 0.00000831●●●●●●
113. 103667787 c.36+7C>T splice site 0.00000830●●●●●●
114. 103667786 c.36+8A>C splice site 0.00000830●●●●●●
115. 103664608 c.54G>A p.M18I missense 0.00000830●●●●●●
116. 103667787 c.36+7C>A splice site 0.00000830●●●●●●
117. 103663700 c.860C>G p.T287R missense 0.00000829●●●●●●
118. 103664109 c.451C>G p.Q151E missense 0.00000829●●●●●●
119. 103662361 c.1442G>A nonsense 0.00000829●●●●●●
120. 103664412 c.250T>G p.F84V missense 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. 103662458 c.1345C>G p.R449G missense 0.00000824●●●●●●
128. 103664506 c.156G>C p.W52C missense 0.00000824●●●●●●
129. 103663826 c.734C>T p.P245L missense 0.00000824●●●●●●
130. 103663870 c.690C>G p.D230E missense 0.00000824●●●●●●
131. 103664021 c.539A>C p.Y180S missense 0.00000824●●●●●●
132. 103662391 c.1412C>G p.A471G missense 0.00000824●●●●●●
133. 103664559 c.103G>A p.E35K missense 0.00000824●●●●●●
134. 103664442 c.220G>A p.E74K missense 0.00000824●●●●●●
135. 103664054 c.506C>A p.T169N missense 0.00000824●●●●●●
136. 103664003 c.557G>A p.R186K missense 0.00000824●●●●●●
137. 103663992 c.568C>T p.H190Y missense 0.00000824●●●●●●
138. 103662493 c.1310G>A p.R437Q missense 0.00000824●●●●●●
139. 103663847 c.713C>T p.T238M missense 0.00000824●●●●●●
140. 103664469 c.193G>A p.V65I missense 0.00000824●●●●●●
141. 103663940 c.620C>T p.P207L missense 0.00000824●●●●●●
142. 103663875 c.685T>C p.Y229H missense 0.00000824●●●●●●
143. 103664027 c.533T>C p.L178P missense 0.00000824●●●●●●
144. 103664574 c.88T>C p.W30R missense 0.00000824●●●●●●
145. 103662455 c.1348C>T p.R450C missense 0.00000824●●●●●●
146. 103662404 c.1399C>A p.L467I missense 0.00000824●●●●●●
147. 103663818 c.742G>C p.V248L missense 0.00000824●●●●●●
148. 103662504 c.1299G>A p.M433I missense 0.00000824●●●●●●
149. 103664061 c.499C>T p.H167Y missense 0.00000824●●●●●●
150. 103663994 c.566C>T p.T189I missense 0.00000824●●●●●●
151. 103662496 c.1307G>A p.R436Q missense 0.00000824●●●●●●
152. 103664009 c.551C>A p.S184Y missense 0.00000824●●●●●●
153. 103664526 c.136A>G p.M46V missense 0.00000824●●●●●●
154. 103662389 c.1414C>A p.L472I missense 0.00000824●●●●●●
155. 103664576 c.86C>A p.S29Y missense 0.00000824●●●●●●
156. 103663958 c.602C>T p.P201L missense 0.00000824●●●●●●
157. 103662457 c.1346G>A p.R449Q missense 0.00000824●●●●●●
158. 103662409 c.1394G>A p.S465N missense 0.00000824●●●●●●
159. 103664015 c.545A>G p.N182S missense 0.00000824●●●●●●
160. 103662568 c.1235G>A p.R412H missense 0.00000824●●●●●●
161. 103663886 c.674G>C p.S225T missense 0.00000824●●●●●●
162. 103664538 c.124G>A p.V42I missense 0.00000824●●●●●●
163. 103664050 c.510C>G p.C170W 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.