ZBTB17 missense variants in ExAC

ZBTB17 gene summary
ZBTB17 variants in

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