ZBTB17 variants in ExAC

ZBTB17 gene summary
ZBTB17 variants in

The table below lists the ZBTB17 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. 16272793 c.395-4C>A splice site 0.00224398●●●●●●
2. 16270394 c.1372-4A>G splice site 0.00199558●●●●●●
3. 16271641 c.718_726dupCAAGAGGAG p.Gln240_Glu242dup inframe 0.00096243●●●●●●
4. 16273559 c.265G>A p.V89M missense 0.00090598●●●●●●
5. 16273507 c.317C>T p.T106M missense 0.00052226●●●●●●
6. 16272798 c.395-9C>T splice site 0.00041672●●●●●●
7. 16271497 c.862C>T p.R288C missense 0.00027858●●●●●●
8. 16271505 c.854G>A p.R285Q missense 0.00025539●●●●●●
9. 16271654 c.705G>T p.K235N missense 0.00023483●●●●●●
10. 16273489 c.335A>T p.K112M missense 0.00023208●●●●●●
11. 16272678 c.506G>A p.R169H missense 0.00018200●●●●●●
12. 16271641 c.718_726delCAAGAGGAG p.Gln240_Glu242del inframe 0.00017645●●●●●●
13. 16270896 c.1270G>A p.G424S missense 0.00016913●●●●●●
14. 16274972 c.19A>G p.S7G missense 0.00015748●●●●●●
15. 16272782 c.402C>A p.D134E missense 0.00014902●●●●●●
16. 16273459 c.365G>C p.G122A missense 0.00014139●●●●●●
17. 16268919 c.2039-4G>A splice site 0.00010032●●●●●●
18. 16268477 c.2399C>T p.P800L missense 0.00009936●●●●●●
19. 16273617 c.207C>T splice site 0.00008676●●●●●●
20. 0 c.-90+5G>T splice site 0.00008556●●●●●●
21. 16271611 c.748G>A p.V250I missense 0.00007985●●●●●●
22. 16268756 c.2129-9C>T splice site 0.00007449●●●●●●
23. 16272676 c.508G>A p.G170S missense 0.00006622●●●●●●
24. 16271522 c.837G>T p.E279D missense 0.00006107●●●●●●
25. 16271590 c.769C>G p.L257V missense 0.00005902●●●●●●
26. 16271569 c.790G>A p.E264K missense 0.00005640●●●●●●
27. 16271472 c.887C>T p.T296M missense 0.00005134●●●●●●
28. 16270788 c.1371+7G>A splice site 0.00004895●●●●●●
29. 16270799 c.1367A>G p.N456S missense 0.00004830●●●●●●
30. 16271705 c.662-8C>T splice site 0.00004729●●●●●●
31. 16271702 c.662-5C>T splice site 0.00004714●●●●●●
32. 16271677 c.682C>G p.R228G missense 0.00004283●●●●●●
33. 16271656 c.703_711delAAGGAGCAA p.Lys235_Gln237del inframe 0.00004282●●●●●●
34. 16268550 c.2326T>A p.F776I missense 0.00004251●●●●●●
35. 16269994 c.1597G>A p.V533M missense 0.00004218●●●●●●
36. 16274929 c.62G>A p.G21E missense 0.00004129●●●●●●
37. 16269685 c.1702G>A p.V568I missense 0.00004123●●●●●●
38. 16268535 c.2341G>A p.G781R missense 0.00003475●●●●●●
39. 16272296 c.575C>T p.P192L missense 0.00003417●●●●●●
40. 16270959 c.1207G>A p.G403S missense 0.00003375●●●●●●
41. 16272655 c.529G>A p.A177T missense 0.00003328●●●●●●
42. 16274791 c.200C>T p.A67V missense 0.00003318●●●●●●
43. 16272673 c.511G>A p.G171S missense 0.00003315●●●●●●
44. 16271429 c.927+3G>C splice site 0.00003123●●●●●●
45. 16270306 c.1456T>A p.S486T missense 0.00002926●●●●●●
46. 16270295 c.1459+8C>T splice site 0.00002871●●●●●●
47. 16268487 c.2389G>A p.E797K missense 0.00002684●●●●●●
48. 16269886 c.1697+8C>G splice site 0.00002680●●●●●●
49. 16268517 c.2359G>A p.A787T missense 0.00002641●●●●●●
50. 16268546 c.2330G>A p.R777H missense 0.00002566●●●●●●
51. 16268547 c.2329C>T p.R777C missense 0.00002559●●●●●●
52. 16269039 c.2023G>A p.V675I missense 0.00002513●●●●●●
53. 16268920 c.2039-5C>T splice site 0.00002510●●●●●●
54. 16273456 c.368G>A p.G123E missense 0.00002498●●●●●●
55. 16269060 c.2002G>A p.E668K missense 0.00002497●●●●●●
56. 16270359 c.1403A>G p.H468R missense 0.00002492●●●●●●
57. 16272792 c.395-3C>T splice site 0.00002492●●●●●●
58. 16273541 c.283G>A p.V95M missense 0.00002490●●●●●●
59. 16269105 c.1957G>A p.E653K missense 0.00002489●●●●●●
60. 16273474 c.350C>T p.P117L missense 0.00002489●●●●●●
61. 16272721 c.463C>A p.R155S missense 0.00002473●●●●●●
62. 16271599 c.760G>A p.G254S missense 0.00002452●●●●●●
63. 16271484 c.875A>T p.Y292F missense 0.00002322●●●●●●
64. 16271343 c.928-9C>T splice site 0.00001911●●●●●●
65. 16269896 c.1695G>A splice site 0.00001778●●●●●●
66. 16273613 c.211G>A p.G71R missense 0.00001727●●●●●●
67. 16268540 c.2336G>A p.R779H missense 0.00001726●●●●●●
68. 16272218 c.653C>G p.S218W missense 0.00001724●●●●●●
69. 16272303 c.568C>T p.R190W missense 0.00001717●●●●●●
70. 16269236 c.1829-3C>T splice site 0.00001711●●●●●●
71. 16269946 c.1645G>A p.V549M missense 0.00001709●●●●●●
72. 0 c.-2-6C>G splice site 0.00001687●●●●●●
73. 16273448 c.376G>A p.E126K missense 0.00001671●●●●●●
74. 16274779 c.205+7C>T splice site 0.00001667●●●●●●
75. 16269020 c.2038+4C>T splice site 0.00001666●●●●●●
76. 16269020 c.2038+4C>G splice site 0.00001666●●●●●●
77. 16269032 c.2030A>G p.Q677R missense 0.00001666●●●●●●
78. 16268886 c.2068G>A p.D690N missense 0.00001665●●●●●●
79. 16274981 c.10C>A p.P4T missense 0.00001664●●●●●●
80. 16268881 c.2073G>C p.E691D missense 0.00001662●●●●●●
81. 16273550 c.274G>A p.V92M missense 0.00001661●●●●●●
82. 16269096 c.1966G>A p.V656M missense 0.00001660●●●●●●
83. 16269080 c.1982A>C p.D661A missense 0.00001660●●●●●●
84. 16274965 c.26A>G p.H9R missense 0.00001656●●●●●●
85. 16272679 c.505C>T p.R169C missense 0.00001654●●●●●●
86. 16268706 c.2170G>A p.D724N missense 0.00001653●●●●●●
87. 16272696 c.488G>A p.R163K missense 0.00001651●●●●●●
88. 16272720 c.464G>A p.R155H missense 0.00001649●●●●●●
89. 16270381 c.1381C>G p.L461V missense 0.00001598●●●●●●
90. 16271520 c.839T>C p.L280P missense 0.00001567●●●●●●
91. 16271040 c.1126C>G p.L376V missense 0.00001547●●●●●●
92. 16271630 c.729G>T p.E243D missense 0.00001546●●●●●●
93. 16271322 c.940G>C p.E314Q missense 0.00001508●●●●●●
94. 16271524 c.835G>A p.E279K missense 0.00001491●●●●●●
95. 16271608 c.751A>C p.K251Q missense 0.00001306●●●●●●
96. 16271539 c.820A>C p.T274P missense 0.00001244●●●●●●
97. 16271598 c.761G>A p.G254D missense 0.00001217●●●●●●
98. 16270354 c.1408G>A p.A470T missense 0.00001213●●●●●●
99. 16271596 c.763T>C p.S255P missense 0.00001206●●●●●●
100. 16270351 c.1411G>A p.D471N missense 0.00001188●●●●●●
101. 16271545 c.814G>A p.A272T missense 0.00001177●●●●●●
102. 16271073 c.1093G>A p.E365K missense 0.00001167●●●●●●
103. 16271571 c.788C>T p.P263L missense 0.00001128●●●●●●
104. 16271079 c.1087G>A p.G363S missense 0.00001099●●●●●●
105. 16271285 c.977G>A p.R326H missense 0.00001076●●●●●●
106. 16271087 c.1079A>G p.K360R missense 0.00001040●●●●●●
107. 16270295 c.1459+8C>A splice site 0.00000957●●●●●●
108. 16271265 c.997C>A p.P333T missense 0.00000936●●●●●●
109. 16271262 c.1000T>G p.F334V missense 0.00000924●●●●●●
110. 16268465 c.2411G>A nonsense 0.00000918●●●●●●
111. 16268469 c.2407G>A p.E803K missense 0.00000915●●●●●●
112. 16269887 c.1697+7C>T splice site 0.00000893●●●●●●
113. 16269886 c.1697+8C>T splice site 0.00000893●●●●●●
114. 16268496 c.2380A>G p.T794A missense 0.00000890●●●●●●
115. 16268498 c.2378C>T p.P793L missense 0.00000888●●●●●●
116. 16271258 c.1004C>T p.S335L missense 0.00000881●●●●●●
117. 16269908 c.1683G>T p.E561D missense 0.00000881●●●●●●
118. 16269910 c.1681G>C p.E561Q missense 0.00000880●●●●●●
119. 16272340 c.536-5C>A splice site 0.00000873●●●●●●
120. 16272202 c.661+8C>G splice site 0.00000866●●●●●●
121. 16272203 c.661+7C>G splice site 0.00000866●●●●●●
122. 16272207 c.661+3A>G splice site 0.00000865●●●●●●
123. 16272204 c.661+6C>T splice site 0.00000865●●●●●●
124. 16272214 c.657G>T p.E219D missense 0.00000864●●●●●●
125. 16272218 c.653C>T p.S218L missense 0.00000862●●●●●●
126. 16272221 c.650G>A p.S217N missense 0.00000861●●●●●●
127. 16272225 c.646G>A p.E216K missense 0.00000861●●●●●●
128. 16272225 c.646G>C p.E216Q missense 0.00000861●●●●●●
129. 16272245 c.626A>C p.E209A missense 0.00000860●●●●●●
130. 16271244 c.1018A>G p.S340G missense 0.00000860●●●●●●
131. 16272308 c.563C>T p.A188V missense 0.00000859●●●●●●
132. 16272227 c.644C>G p.S215C missense 0.00000859●●●●●●
133. 16272302 c.569G>A p.R190Q missense 0.00000858●●●●●●
134. 16268544 c.2332C>T p.P778S missense 0.00000857●●●●●●
135. 16272237 c.634G>A p.A212T missense 0.00000857●●●●●●
136. 16268548 c.2328C>A p.F776L missense 0.00000852●●●●●●
137. 16269952 c.1639G>A p.A547T missense 0.00000851●●●●●●
138. 16271186 c.1070+6G>A splice site 0.00000851●●●●●●
139. 16271208 c.1054C>A p.H352N missense 0.00000848●●●●●●
140. 16269963 c.1628G>C p.S543T missense 0.00000847●●●●●●
141. 16269979 c.1612G>T p.A538S missense 0.00000845●●●●●●
142. 16273439 c.385G>A p.A129T missense 0.00000843●●●●●●
143. 16268567 c.2309A>G p.Q770R missense 0.00000843●●●●●●
144. 16269551 c.1828+8G>A splice site 0.00000842●●●●●●
145. 16270018 c.1577-4C>T splice site 0.00000841●●●●●●
146. 0 c.-2-3C>T splice site 0.00000840●●●●●●
147. 16268583 c.2293G>A p.A765T missense 0.00000839●●●●●●
148. 16269047 c.2015C>T p.A672V missense 0.00000838●●●●●●
149. 16269047 c.2015C>A p.A672E missense 0.00000838●●●●●●
150. 16268922 c.2039-7C>T splice site 0.00000836●●●●●●
151. 16272647 c.535+2T>A essential splice site 0.00000834●●●●●●
152. 16269210 c.1852A>G p.K618E missense 0.00000834●●●●●●
153. 16268903 c.2051G>A p.G684E missense 0.00000834●●●●●●
154. 16273571 c.253A>G p.S85G missense 0.00000833●●●●●●
155. 16274983 c.8T>A p.F3Y missense 0.00000833●●●●●●
156. 16274982 c.9T>A p.F3L missense 0.00000832●●●●●●
157. 16268879 c.2075C>T p.T692M missense 0.00000831●●●●●●
158. 16273466 c.358A>C p.S120R missense 0.00000831●●●●●●
159. 16269071 c.1991C>T p.T664M missense 0.00000831●●●●●●
160. 16270109 c.1561G>C p.V521L missense 0.00000831●●●●●●
161. 16268624 c.2252C>T p.A751V missense 0.00000830●●●●●●
162. 16274977 c.14A>G p.Q5R missense 0.00000830●●●●●●
163. 16269188 c.1874G>A p.R625Q missense 0.00000830●●●●●●
164. 16268625 c.2251G>T p.A751S missense 0.00000830●●●●●●
165. 16268625 c.2251G>A p.A751T missense 0.00000830●●●●●●
166. 16273469 c.355A>G p.T119A missense 0.00000830●●●●●●
167. 16270090 c.1576+4G>C splice site 0.00000830●●●●●●
168. 16269078 c.1984A>G p.M662V missense 0.00000830●●●●●●
169. 16269158 c.1904C>A p.T635N missense 0.00000829●●●●●●
170. 16268828 c.2126_2128delAAG p.Glu709del inframe 0.00000829●●●●●●
171. 16273524 c.300A>C p.Q100H missense 0.00000829●●●●●●
172. 16273489 c.335A>G p.K112R missense 0.00000829●●●●●●
173. 16269119 c.1943C>G p.P648R missense 0.00000829●●●●●●
174. 16273529 c.295C>T p.L99F missense 0.00000829●●●●●●
175. 16273493 c.331C>T p.L111F missense 0.00000829●●●●●●
176. 16269120 c.1942C>T p.P648S missense 0.00000829●●●●●●
177. 16269111 c.1951G>T p.G651C missense 0.00000829●●●●●●
178. 16269137 c.1925G>C p.G642A missense 0.00000829●●●●●●
179. 16273512 c.312C>G p.I104M missense 0.00000829●●●●●●
180. 16269117 c.1945G>A p.E649K missense 0.00000829●●●●●●
181. 16272784 c.400G>C p.D134H missense 0.00000828●●●●●●
182. 16269580 c.1807A>C p.K603Q missense 0.00000828●●●●●●
183. 16268674 c.2202G>T p.Q734H missense 0.00000827●●●●●●
184. 16274802 c.189C>G p.D63E missense 0.00000827●●●●●●
185. 16272778 c.406A>G p.R136G missense 0.00000827●●●●●●
186. 16268752 c.2129-5delC splice site 0.00000827●●●●●●
187. 16268724 c.2152G>A p.A718T missense 0.00000827●●●●●●
188. 16269595 c.1792G>A p.V598M missense 0.00000826●●●●●●
189. 16274831 c.160G>A p.V54M missense 0.00000826●●●●●●
190. 16272684 c.500A>G p.E167G missense 0.00000826●●●●●●
191. 16274831 c.160G>C p.V54L missense 0.00000826●●●●●●
192. 16274852 c.139G>A p.E47K missense 0.00000826●●●●●●
193. 16274927 c.64C>A p.L22I missense 0.00000826●●●●●●
194. 16274897 c.94G>A p.G32S missense 0.00000825●●●●●●
195. 16274863 c.128C>T p.A43V missense 0.00000825●●●●●●
196. 16272759 c.425T>C p.V142A missense 0.00000825●●●●●●
197. 16269663 c.1724A>G p.N575S missense 0.00000825●●●●●●
198. 16272708 c.476T>C p.I159T missense 0.00000825●●●●●●
199. 16274902 c.89T>C p.V30A missense 0.00000825●●●●●●
200. 16274882 c.109G>T p.A37S missense 0.00000825●●●●●●
201. 16269619 c.1768G>A p.V590M missense 0.00000825●●●●●●
202. 16274911 c.80C>G p.T27S missense 0.00000825●●●●●●
203. 16274896 c.95G>C p.G32A missense 0.00000825●●●●●●
204. 16269642 c.1745A>G p.N582S missense 0.00000825●●●●●●
205. 16272735 c.449T>C p.L150P 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.