MDM2 variants in ExAC

MDM2 gene summary
MDM2 variants in

The table below lists the MDM2 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. 69207324 c.100-10C>A splice site 0.00180754●●●●●●
2. 69229771 c.840+7delT splice site 0.00056308●●●●●●
3. 69233096 c.961C>T p.L321F missense 0.00020760●●●●●●
4. 69233367 c.1232A>G p.Y411C missense 0.00017391●●●●●●
5. 69222548 c.524-3C>T splice site 0.00015080●●●●●●
6. 69233377 c.1242A>C p.Q414H missense 0.00014907●●●●●●
7. 69233249 c.1114A>G p.I372V missense 0.00014086●●●●●●
8. 69203017 c.44C>T p.P15L missense 0.00012421●●●●●●
9. 69233256 c.1121A>G p.N374S missense 0.00011600●●●●●●
10. 69233130 c.995G>A p.R332H missense 0.00008292●●●●●●
11. 69218135 c.359-8_359-7delTC splice site 0.00007911●●●●●●
12. 69229772 c.840+8T>G splice site 0.00005990●●●●●●
13. 69214100 c.309-5A>G splice site 0.00005809●●●●●●
14. 69229607 c.685-2A>T essential splice site 0.00004988●●●●●●
15. 69230537 c.918+8T>C splice site 0.00004983●●●●●●
16. 69233376 c.1241A>T p.Q414L missense 0.00004969●●●●●●
17. 69218149 c.365C>T p.S122L missense 0.00004247●●●●●●
18. 69222563 c.536A>G p.D179G missense 0.00004156●●●●●●
19. 69222640 c.613C>G p.L205V missense 0.00004149●●●●●●
20. 69233134 c.999G>T p.E333D missense 0.00003317●●●●●●
21. 69233205 c.1070C>A p.T357K missense 0.00003314●●●●●●
22. 69233354 c.1219A>G p.S407G missense 0.00003313●●●●●●
23. 69210643 c.226A>C p.K76Q missense 0.00002495●●●●●●
24. 69233090 c.955C>A p.P319T missense 0.00002494●●●●●●
25. 69214105 c.309G>A splice site 0.00002489●●●●●●
26. 69230529 c.918T>C splice site 0.00002487●●●●●●
27. 69203076 c.99+4A>G splice site 0.00002485●●●●●●
28. 69230476 c.865G>A p.A289T missense 0.00002485●●●●●●
29. 69233438 c.1303A>C p.S435R missense 0.00002484●●●●●●
30. 69229771 c.840+7dupT splice site 0.00001706●●●●●●
31. 69218176 c.392A>G p.N131S missense 0.00001674●●●●●●
32. 69218187 c.403C>T p.L135F missense 0.00001672●●●●●●
33. 69210644 c.227A>T p.K76M missense 0.00001663●●●●●●
34. 69229612 c.688C>G p.L230V missense 0.00001660●●●●●●
35. 69222581 c.554G>A p.R185Q missense 0.00001659●●●●●●
36. 69229742 c.818A>C p.E273A missense 0.00001658●●●●●●
37. 69214146 c.350A>G p.N117S missense 0.00001658●●●●●●
38. 69207329 c.100-5T>G splice site 0.00001658●●●●●●
39. 69203077 c.99+5_99+12delGTATTTTT splice site 0.00001657●●●●●●
40. 69218359 c.451G>C p.E151Q missense 0.00001657●●●●●●
41. 69233326 c.1191T>G p.S397R missense 0.00001657●●●●●●
42. 69230475 c.864G>C p.Q288H missense 0.00001657●●●●●●
43. 69233174 c.1039A>G p.I347V missense 0.00001657●●●●●●
44. 69233458 c.1323T>G p.I441M missense 0.00001656●●●●●●
45. 69233043 c.919-11T>C splice site 0.00000876●●●●●●
46. 69218137 c.359-6T>C splice site 0.00000871●●●●●●
47. 69233049 c.919-5T>G splice site 0.00000869●●●●●●
48. 69218139 c.359-4T>G splice site 0.00000866●●●●●●
49. 69233055 c.920A>G p.D307G missense 0.00000860●●●●●●
50. 69229769 c.840+5_840+6insA splice site 0.00000843●●●●●●
51. 69229769 c.840+5_840+7delTAT splice site 0.00000842●●●●●●
52. 69202274 c.14+3A>G splice site 0.00000841●●●●●●
53. 69202279 c.14+8C>T splice site 0.00000841●●●●●●
54. 69218200 c.416G>C p.S139T missense 0.00000836●●●●●●
55. 69218205 c.421C>G p.Q141E missense 0.00000836●●●●●●
56. 69222556 c.529A>G p.N177D missense 0.00000833●●●●●●
57. 69222557 c.530A>G p.N177S missense 0.00000833●●●●●●
58. 69233083 c.948A>C p.E316D missense 0.00000833●●●●●●
59. 69233090 c.955C>T p.P319S missense 0.00000831●●●●●●
60. 69222698 c.671C>T p.T224M missense 0.00000831●●●●●●
61. 69222676 c.649A>C p.S217R missense 0.00000831●●●●●●
62. 69218429 c.521C>T p.T174I missense 0.00000831●●●●●●
63. 69222679 c.652A>G p.S218G missense 0.00000831●●●●●●
64. 69222697 c.670A>G p.T224A missense 0.00000831●●●●●●
65. 69218427 c.519G>C p.E173D missense 0.00000831●●●●●●
66. 69222632 c.605G>A p.S202N missense 0.00000830●●●●●●
67. 69233111 c.976A>G p.N326D missense 0.00000830●●●●●●
68. 69222649 c.622A>G p.I208V missense 0.00000830●●●●●●
69. 69214099 c.309-6T>C splice site 0.00000830●●●●●●
70. 69222658 c.631A>C p.I211L missense 0.00000830●●●●●●
71. 69233129 c.994C>T p.R332C missense 0.00000829●●●●●●
72. 69222595 c.568C>A p.H190N missense 0.00000829●●●●●●
73. 69233184 c.1049A>G p.K350R missense 0.00000829●●●●●●
74. 69207331 c.100-3T>C splice site 0.00000829●●●●●●
75. 69230521 c.910T>C p.S304P missense 0.00000829●●●●●●
76. 69233147 c.1012_1023delGAAGATAAAGGG p.Glu338_Gly341del inframe 0.00000829●●●●●●
77. 69233312 c.1177C>G p.Q393E missense 0.00000829●●●●●●
78. 69210694 c.277G>C p.G93R missense 0.00000829●●●●●●
79. 69218351 c.443T>C p.L148P missense 0.00000829●●●●●●
80. 69222628 c.601G>A p.E201K missense 0.00000829●●●●●●
81. 69233582 c.1447G>T p.V483L missense 0.00000829●●●●●●
82. 69233187 c.1052C>G p.A351G missense 0.00000829●●●●●●
83. 69207416 c.174+8G>A splice site 0.00000829●●●●●●
84. 69233213 c.1078delG p.Glu360LysfsTer13 frameshift 0.00000829●●●●●●
85. 69214125 c.329A>G p.Y110C missense 0.00000829●●●●●●
86. 69233151 c.1016A>C p.D339A missense 0.00000829●●●●●●
87. 69203080 c.99+8T>C splice site 0.00000829●●●●●●
88. 69229731 c.807A>C p.E269D missense 0.00000829●●●●●●
89. 69207390 c.156C>G p.D52E missense 0.00000829●●●●●●
90. 69222629 c.602A>G p.E201G missense 0.00000829●●●●●●
91. 69218398 c.490A>T p.T164S missense 0.00000829●●●●●●
92. 69233288 c.1153G>A p.D385N missense 0.00000829●●●●●●
93. 69210683 c.266G>A p.G89E missense 0.00000829●●●●●●
94. 69233201 c.1066T>G p.S356A missense 0.00000829●●●●●●
95. 69233117 c.982T>C p.C328R missense 0.00000829●●●●●●
96. 69229618 c.694G>A p.A232T missense 0.00000829●●●●●●
97. 69222587 c.560G>A p.R187K missense 0.00000829●●●●●●
98. 69222611 c.584T>G p.I195S missense 0.00000829●●●●●●
99. 69229620 c.696_698delTGG p.Gly233del inframe 0.00000829●●●●●●
100. 69233115 c.980G>A p.R327K missense 0.00000829●●●●●●
101. 69233306 c.1171G>C p.A391P missense 0.00000829●●●●●●
102. 69210692 c.275T>G p.F92C missense 0.00000829●●●●●●
103. 69229636 c.712T>G p.S238A missense 0.00000828●●●●●●
104. 69233456 c.1321A>G p.I441V missense 0.00000828●●●●●●
105. 69233530 c.1395G>C p.M465I missense 0.00000828●●●●●●
106. 69233397 c.1262A>G p.E421G missense 0.00000828●●●●●●
107. 69233334 c.1199A>G p.Y400C missense 0.00000828●●●●●●
108. 69203065 c.92A>G p.E31G missense 0.00000828●●●●●●
109. 69233464 c.1329delT p.Cys444ValfsTer2 frameshift 0.00000828●●●●●●
110. 69233439 c.1304G>A p.S435N missense 0.00000828●●●●●●
111. 69203011 c.38C>T p.S13F missense 0.00000828●●●●●●
112. 69229705 c.781G>C p.D261H missense 0.00000828●●●●●●
113. 69233325 c.1190G>A p.S397N missense 0.00000828●●●●●●
114. 69233416 c.1281C>G p.D427E missense 0.00000828●●●●●●
115. 69233370 c.1235G>T p.S412I missense 0.00000828●●●●●●
116. 69203068 c.95C>A p.T32N missense 0.00000828●●●●●●
117. 69229705 c.781G>A p.D261N missense 0.00000828●●●●●●
118. 69233444 c.1309C>T p.P437S missense 0.00000828●●●●●●
119. 69203037 c.64A>G p.T22A missense 0.00000828●●●●●●
120. 69233416 c.1281C>A p.D427E missense 0.00000828●●●●●●
121. 69207374 c.140T>C p.V47A missense 0.00000828●●●●●●
122. 69233384 c.1249_1250insTGA p.Val417_Lys418insMet inframe 0.00000828●●●●●●
123. 69233466 c.1331G>A p.C444Y missense 0.00000828●●●●●●
124. 69233447 c.1312C>T p.L438F missense 0.00000828●●●●●●
125. 69233372 c.1237A>G p.S413G missense 0.00000828●●●●●●
126. 69233330 c.1195G>C p.D399H missense 0.00000828●●●●●●
127. 69203047 c.74T>C p.I25T missense 0.00000828●●●●●●

* 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.