MIB1 missense variants in ExAC

MIB1 gene summary
MIB1 variants in

The table below lists the MIB1 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. 19429174 c.2411G>A p.R804Q missense 0.00035733●●●●●●
2. 19444613 c.3007A>G p.I1003V missense 0.00024716●●●●●●
3. 19438554 c.2827G>T p.V943F missense 0.00014018●●●●●●
4. 19399549 c.1771A>T p.I591F missense 0.00012361●●●●●●
5. 19383931 c.1435A>G p.I479V missense 0.00011646●●●●●●
6. 19321581 c.37G>C p.G13R missense 0.00010459●●●●●●
7. 19378178 c.1226A>G p.N409S missense 0.00009910●●●●●●
8. 19321773 c.229G>A p.G77S missense 0.00006886●●●●●●
9. 19321599 c.55G>A p.V19M missense 0.00006758●●●●●●
10. 19345769 c.266G>T p.R89L missense 0.00006590●●●●●●
11. 19348601 c.419G>A p.R140H missense 0.00006283●●●●●●
12. 19429168 c.2405G>A p.G802D missense 0.00005842●●●●●●
13. 19437171 c.2746G>A p.G916R missense 0.00005775●●●●●●
14. 19345768 c.265C>G p.R89G missense 0.00005767●●●●●●
15. 19348624 c.442G>T p.A148S missense 0.00005487●●●●●●
16. 19348658 c.476G>A p.R159Q missense 0.00005331●●●●●●
17. 19379859 c.1295A>G p.N432S missense 0.00004971●●●●●●
18. 19371415 c.989C>T p.T330I missense 0.00004122●●●●●●
19. 19444569 c.2963G>A p.R988H missense 0.00004118●●●●●●
20. 19321548 c.4A>G p.S2G missense 0.00003799●●●●●●
21. 19321555 c.11C>G p.S4C missense 0.00002653●●●●●●
22. 19423096 c.1967A>C p.N656T missense 0.00002565●●●●●●
23. 19423096 c.1967A>G p.N656S missense 0.00002565●●●●●●
24. 19379919 c.1355A>C p.K452T missense 0.00002494●●●●●●
25. 19379886 c.1322A>G p.N441S missense 0.00002487●●●●●●
26. 19371367 c.941C>T p.A314V missense 0.00002485●●●●●●
27. 19418424 c.1928A>G p.N643S missense 0.00002474●●●●●●
28. 19438558 c.2831A>G p.N944S missense 0.00002473●●●●●●
29. 19399549 c.1771A>G p.I591V missense 0.00002472●●●●●●
30. 19321560 c.16A>C p.N6H missense 0.00002153●●●●●●
31. 19321654 c.110G>A p.G37D missense 0.00002058●●●●●●
32. 19321692 c.148G>A p.V50I missense 0.00002047●●●●●●
33. 19348703 c.521G>A p.R174H missense 0.00001881●●●●●●
34. 19424207 c.2204A>G p.K735R missense 0.00001705●●●●●●
35. 19371354 c.928G>A p.V310I missense 0.00001666●●●●●●
36. 19379835 c.1271A>G p.E424G missense 0.00001658●●●●●●
37. 19371378 c.952C>G p.R318G missense 0.00001653●●●●●●
38. 19371379 c.953G>A p.R318Q missense 0.00001652●●●●●●
39. 19358119 c.692G>T p.C231F missense 0.00001650●●●●●●
40. 19438543 c.2816A>T p.D939V missense 0.00001650●●●●●●
41. 19371397 c.971A>G p.Q324R missense 0.00001650●●●●●●
42. 19418429 c.1933G>A p.V645I missense 0.00001650●●●●●●
43. 19429195 c.2432A>G p.N811S missense 0.00001650●●●●●●
44. 19371402 c.976G>A p.A326T missense 0.00001649●●●●●●
45. 19353639 c.586C>G p.L196V missense 0.00001649●●●●●●
46. 19358076 c.649T>C p.C217R missense 0.00001649●●●●●●
47. 19371466 c.1040G>A p.R347Q missense 0.00001649●●●●●●
48. 19418411 c.1915G>A p.A639T missense 0.00001649●●●●●●
49. 19358085 c.658G>C p.D220H missense 0.00001649●●●●●●
50. 19424062 c.2059C>T p.R687C missense 0.00001648●●●●●●
51. 19424075 c.2072A>C p.K691T missense 0.00001648●●●●●●
52. 19359646 c.908G>C p.R303T missense 0.00001648●●●●●●
53. 19426939 c.2246A>G p.K749R missense 0.00001648●●●●●●
54. 19424054 c.2051T>G p.L684R missense 0.00001648●●●●●●
55. 19399514 c.1736T>C p.L579P missense 0.00001648●●●●●●
56. 19426981 c.2288G>A p.G763D missense 0.00001648●●●●●●
57. 19345769 c.266G>A p.R89H missense 0.00001648●●●●●●
58. 19359613 c.875A>G p.H292R missense 0.00001648●●●●●●
59. 19395657 c.1560T>G p.S520R missense 0.00001648●●●●●●
60. 19429221 c.2458A>G p.M820V missense 0.00001648●●●●●●
61. 19345892 c.389C>T p.P130L missense 0.00001647●●●●●●
62. 19345816 c.313A>G p.N105D missense 0.00001647●●●●●●
63. 19348635 c.453C>G p.I151M missense 0.00001451●●●●●●
64. 19321573 c.29T>C p.M10T missense 0.00001447●●●●●●
65. 19321590 c.46G>A p.A16T missense 0.00001202●●●●●●
66. 19321590 c.46G>T p.A16S missense 0.00001202●●●●●●
67. 19321593 c.49C>T p.R17W missense 0.00001177●●●●●●
68. 19321611 c.67G>T p.D23Y missense 0.00001076●●●●●●
69. 19321632 c.88G>A p.D30N missense 0.00001048●●●●●●
70. 19321701 c.157G>A p.D53N missense 0.00001035●●●●●●
71. 19348676 c.494G>T p.W165L missense 0.00000972●●●●●●
72. 19348677 c.495G>T p.W165C missense 0.00000969●●●●●●
73. 19348712 c.530A>G p.K177R missense 0.00000950●●●●●●
74. 19348702 c.520C>T p.R174C missense 0.00000939●●●●●●
75. 19424213 c.2210C>A p.T737K missense 0.00000873●●●●●●
76. 19423169 c.2040G>C p.Q680H missense 0.00000872●●●●●●
77. 19423165 c.2036C>T p.T679I missense 0.00000864●●●●●●
78. 19427086 c.2393G>T p.S798I missense 0.00000857●●●●●●
79. 19423095 c.1966A>C p.N656H missense 0.00000856●●●●●●
80. 19423099 c.1970C>T p.A657V missense 0.00000852●●●●●●
81. 19423107 c.1978G>A p.D660N missense 0.00000847●●●●●●
82. 19423142 c.2013C>G p.H671Q missense 0.00000844●●●●●●
83. 19423128 c.1999C>G p.Q667E missense 0.00000842●●●●●●
84. 19429161 c.2398C>G p.Q800E missense 0.00000842●●●●●●
85. 19383964 c.1468G>A p.V490I missense 0.00000842●●●●●●
86. 19418330 c.1834A>G p.M612V missense 0.00000837●●●●●●
87. 19399607 c.1829G>T p.S610I missense 0.00000834●●●●●●
88. 19429173 c.2410C>T p.R804W missense 0.00000832●●●●●●
89. 19418336 c.1840G>A p.V614I missense 0.00000832●●●●●●
90. 19379811 c.1247C>T p.S416L missense 0.00000831●●●●●●
91. 19379810 c.1246T>G p.S416A missense 0.00000831●●●●●●
92. 19437199 c.2774A>C p.D925A missense 0.00000830●●●●●●
93. 19437199 c.2774A>G p.D925G missense 0.00000830●●●●●●
94. 19424188 c.2185G>A p.A729T missense 0.00000829●●●●●●
95. 19371510 c.1084A>G p.M362V missense 0.00000829●●●●●●
96. 19399472 c.1694C>G p.T565S missense 0.00000829●●●●●●
97. 19379842 c.1278A>C p.Q426H missense 0.00000829●●●●●●
98. 19438510 c.2783G>T p.S928I missense 0.00000829●●●●●●
99. 19429178 c.2415T>A p.S805R missense 0.00000829●●●●●●
100. 19371508 c.1082C>T p.A361V missense 0.00000828●●●●●●
101. 19418348 c.1852A>G p.K618E missense 0.00000828●●●●●●
102. 19429179 c.2416C>T p.P806S missense 0.00000828●●●●●●
103. 19399477 c.1699C>T p.L567F missense 0.00000828●●●●●●
104. 19438513 c.2786G>A p.G929E missense 0.00000828●●●●●●
105. 19438518 c.2791A>T p.I931F missense 0.00000827●●●●●●
106. 19371500 c.1074G>C p.W358C missense 0.00000827●●●●●●
107. 19371504 c.1078G>A p.E360K missense 0.00000827●●●●●●
108. 19418350 c.1854A>T p.K618N missense 0.00000827●●●●●●
109. 19378049 c.1097T>C p.L366S missense 0.00000826●●●●●●
110. 19418450 c.1954G>A p.V652I missense 0.00000826●●●●●●
111. 19429315 c.2552T>A p.L851H missense 0.00000826●●●●●●
112. 19427055 c.2362G>T p.A788S missense 0.00000826●●●●●●
113. 19418366 c.1870A>G p.I624V missense 0.00000826●●●●●●
114. 19378177 c.1225A>G p.N409D missense 0.00000826●●●●●●
115. 19429190 c.2427T>G p.I809M missense 0.00000826●●●●●●
116. 19353588 c.535A>G p.T179A missense 0.00000826●●●●●●
117. 19378061 c.1109G>A p.G370D missense 0.00000826●●●●●●
118. 19378187 c.1235G>A p.G412D missense 0.00000826●●●●●●
119. 19424177 c.2174G>C p.G725A missense 0.00000826●●●●●●
120. 19395605 c.1508A>C p.H503P missense 0.00000825●●●●●●
121. 19378132 c.1180C>A p.P394T missense 0.00000825●●●●●●
122. 19437142 c.2717G>A p.R906Q missense 0.00000825●●●●●●
123. 19418421 c.1925A>G p.N642S missense 0.00000825●●●●●●
124. 19358101 c.674C>G p.S225C missense 0.00000825●●●●●●
125. 19378130 c.1178A>G p.N393S missense 0.00000825●●●●●●
126. 19438542 c.2815G>A p.D939N missense 0.00000825●●●●●●
127. 19395605 c.1508A>G p.H503R missense 0.00000825●●●●●●
128. 19437156 c.2731A>T p.I911F missense 0.00000825●●●●●●
129. 19378064 c.1112G>A p.R371Q missense 0.00000825●●●●●●
130. 19427041 c.2348C>T p.P783L missense 0.00000825●●●●●●
131. 19424165 c.2162T>C p.M721T missense 0.00000825●●●●●●
132. 19418407 c.1911T>A p.H637Q missense 0.00000825●●●●●●
133. 19353667 c.614A>G p.Y205C missense 0.00000825●●●●●●
134. 19427044 c.2351A>G p.N784S missense 0.00000825●●●●●●
135. 19378066 c.1114G>A p.V372I missense 0.00000825●●●●●●
136. 19437172 c.2747G>A p.G916E missense 0.00000825●●●●●●
137. 19399501 c.1723C>T p.R575C missense 0.00000825●●●●●●
138. 19426960 c.2267C>A p.A756D missense 0.00000824●●●●●●
139. 19424103 c.2100T>G p.D700E missense 0.00000824●●●●●●
140. 19371468 c.1042A>G p.I348V missense 0.00000824●●●●●●
141. 19359579 c.841A>G p.T281A missense 0.00000824●●●●●●
142. 19395695 c.1598C>T p.P533L missense 0.00000824●●●●●●
143. 19427017 c.2324C>T p.S775L missense 0.00000824●●●●●●
144. 19353627 c.574G>A p.A192T missense 0.00000824●●●●●●
145. 19345873 c.370T>C p.F124L missense 0.00000824●●●●●●
146. 19424113 c.2110C>T p.H704Y missense 0.00000824●●●●●●
147. 19395611 c.1514C>G p.A505G missense 0.00000824●●●●●●
148. 19426932 c.2239G>T p.A747S missense 0.00000824●●●●●●
149. 19345784 c.281T>A p.I94N missense 0.00000824●●●●●●
150. 19444539 c.2933G>T p.G978V missense 0.00000824●●●●●●
151. 19444511 c.2905C>T p.R969C missense 0.00000824●●●●●●
152. 19371460 c.1034T>C p.L345P missense 0.00000824●●●●●●
153. 19395641 c.1544T>C p.V515A missense 0.00000824●●●●●●
154. 19399540 c.1762G>A p.D588N missense 0.00000824●●●●●●
155. 19395628 c.1531G>A p.A511T missense 0.00000824●●●●●●
156. 19358071 c.644T>G p.L215R missense 0.00000824●●●●●●
157. 19429273 c.2510T>C p.I837T missense 0.00000824●●●●●●
158. 19429285 c.2522C>T p.S841F missense 0.00000824●●●●●●
159. 19426963 c.2270G>A p.C757Y missense 0.00000824●●●●●●
160. 19444574 c.2968A>T p.S990C missense 0.00000824●●●●●●
161. 19424107 c.2104C>G p.P702A missense 0.00000824●●●●●●
162. 19345811 c.308G>T p.C103F missense 0.00000824●●●●●●
163. 19359598 c.860G>A p.G287D missense 0.00000824●●●●●●
164. 19438557 c.2830A>G p.N944D missense 0.00000824●●●●●●
165. 19433138 c.2624C>T p.A875V missense 0.00000824●●●●●●
166. 19359624 c.886G>T p.V296L missense 0.00000824●●●●●●
167. 19371463 c.1037A>C p.E346A missense 0.00000824●●●●●●
168. 19358070 c.643C>G p.L215V missense 0.00000824●●●●●●
169. 19444547 c.2941A>C p.T981P missense 0.00000824●●●●●●
170. 19424081 c.2078A>C p.D693A missense 0.00000824●●●●●●
171. 19429275 c.2512G>T p.A838S missense 0.00000824●●●●●●
172. 19399543 c.1765G>C p.V589L missense 0.00000824●●●●●●
173. 19359480 c.742A>G p.I248V missense 0.00000824●●●●●●
174. 19444613 c.3007A>C p.I1003L missense 0.00000824●●●●●●
175. 19444512 c.2906G>A p.R969H missense 0.00000824●●●●●●
176. 19371433 c.1007G>T p.G336V missense 0.00000824●●●●●●
177. 19433164 c.2650A>C p.M884L missense 0.00000824●●●●●●
178. 19359627 c.889C>G p.Q297E missense 0.00000824●●●●●●
179. 19345871 c.368G>A p.R123H missense 0.00000824●●●●●●
180. 19426956 c.2263A>G p.I755V missense 0.00000824●●●●●●
181. 19444568 c.2962C>T p.R988C missense 0.00000824●●●●●●
182. 19424087 c.2084A>G p.Q695R missense 0.00000824●●●●●●
183. 19424072 c.2069C>T p.A690V missense 0.00000824●●●●●●
184. 19371433 c.1007G>A p.G336D missense 0.00000824●●●●●●
185. 19429285 c.2522C>G p.S841C missense 0.00000824●●●●●●
186. 19359507 c.769G>C p.D257H missense 0.00000824●●●●●●
187. 19427011 c.2318G>C p.G773A missense 0.00000824●●●●●●
188. 19353619 c.566C>A p.P189Q missense 0.00000824●●●●●●
189. 19345870 c.367C>T p.R123C missense 0.00000824●●●●●●
190. 19345780 c.277A>G p.I93V missense 0.00000824●●●●●●
191. 19444526 c.2920A>G p.I974V missense 0.00000824●●●●●●
192. 19371437 c.1011T>A p.D337E missense 0.00000824●●●●●●
193. 19433166 c.2652G>A p.M884I missense 0.00000824●●●●●●
194. 19359636 c.898A>G p.S300G missense 0.00000824●●●●●●
195. 19359618 c.880A>G p.I294V missense 0.00000824●●●●●●
196. 19345876 c.373T>C p.Y125H missense 0.00000824●●●●●●
197. 19358067 c.640G>A p.D214N 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.