MDM2 missense variants in ExAC

MDM2 gene summary
MDM2 variants in

The table below lists the MDM2 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. 69233096 c.961C>T p.L321F missense 0.00020760●●●●●●
2. 69233367 c.1232A>G p.Y411C missense 0.00017391●●●●●●
3. 69233377 c.1242A>C p.Q414H missense 0.00014907●●●●●●
4. 69233249 c.1114A>G p.I372V missense 0.00014086●●●●●●
5. 69203017 c.44C>T p.P15L missense 0.00012421●●●●●●
6. 69233256 c.1121A>G p.N374S missense 0.00011600●●●●●●
7. 69233130 c.995G>A p.R332H missense 0.00008292●●●●●●
8. 69233376 c.1241A>T p.Q414L missense 0.00004969●●●●●●
9. 69218149 c.365C>T p.S122L missense 0.00004247●●●●●●
10. 69222563 c.536A>G p.D179G missense 0.00004156●●●●●●
11. 69222640 c.613C>G p.L205V missense 0.00004149●●●●●●
12. 69233134 c.999G>T p.E333D missense 0.00003317●●●●●●
13. 69233205 c.1070C>A p.T357K missense 0.00003314●●●●●●
14. 69233354 c.1219A>G p.S407G missense 0.00003313●●●●●●
15. 69210643 c.226A>C p.K76Q missense 0.00002495●●●●●●
16. 69233090 c.955C>A p.P319T missense 0.00002494●●●●●●
17. 69230476 c.865G>A p.A289T missense 0.00002485●●●●●●
18. 69233438 c.1303A>C p.S435R missense 0.00002484●●●●●●
19. 69218176 c.392A>G p.N131S missense 0.00001674●●●●●●
20. 69218187 c.403C>T p.L135F missense 0.00001672●●●●●●
21. 69210644 c.227A>T p.K76M missense 0.00001663●●●●●●
22. 69229612 c.688C>G p.L230V missense 0.00001660●●●●●●
23. 69222581 c.554G>A p.R185Q missense 0.00001659●●●●●●
24. 69229742 c.818A>C p.E273A missense 0.00001658●●●●●●
25. 69214146 c.350A>G p.N117S missense 0.00001658●●●●●●
26. 69230475 c.864G>C p.Q288H missense 0.00001657●●●●●●
27. 69218359 c.451G>C p.E151Q missense 0.00001657●●●●●●
28. 69233326 c.1191T>G p.S397R missense 0.00001657●●●●●●
29. 69233174 c.1039A>G p.I347V missense 0.00001657●●●●●●
30. 69233458 c.1323T>G p.I441M missense 0.00001656●●●●●●
31. 69233055 c.920A>G p.D307G missense 0.00000860●●●●●●
32. 69218205 c.421C>G p.Q141E missense 0.00000836●●●●●●
33. 69218200 c.416G>C p.S139T missense 0.00000836●●●●●●
34. 69233083 c.948A>C p.E316D missense 0.00000833●●●●●●
35. 69222557 c.530A>G p.N177S missense 0.00000833●●●●●●
36. 69222556 c.529A>G p.N177D missense 0.00000833●●●●●●
37. 69218427 c.519G>C p.E173D missense 0.00000831●●●●●●
38. 69233090 c.955C>T p.P319S missense 0.00000831●●●●●●
39. 69222698 c.671C>T p.T224M missense 0.00000831●●●●●●
40. 69222676 c.649A>C p.S217R missense 0.00000831●●●●●●
41. 69218429 c.521C>T p.T174I missense 0.00000831●●●●●●
42. 69222679 c.652A>G p.S218G missense 0.00000831●●●●●●
43. 69222697 c.670A>G p.T224A missense 0.00000831●●●●●●
44. 69222658 c.631A>C p.I211L missense 0.00000830●●●●●●
45. 69222632 c.605G>A p.S202N missense 0.00000830●●●●●●
46. 69233111 c.976A>G p.N326D missense 0.00000830●●●●●●
47. 69222649 c.622A>G p.I208V missense 0.00000830●●●●●●
48. 69233306 c.1171G>C p.A391P missense 0.00000829●●●●●●
49. 69210692 c.275T>G p.F92C missense 0.00000829●●●●●●
50. 69233129 c.994C>T p.R332C missense 0.00000829●●●●●●
51. 69222595 c.568C>A p.H190N missense 0.00000829●●●●●●
52. 69233184 c.1049A>G p.K350R missense 0.00000829●●●●●●
53. 69230521 c.910T>C p.S304P missense 0.00000829●●●●●●
54. 69233115 c.980G>A p.R327K missense 0.00000829●●●●●●
55. 69222611 c.584T>G p.I195S missense 0.00000829●●●●●●
56. 69233312 c.1177C>G p.Q393E missense 0.00000829●●●●●●
57. 69210694 c.277G>C p.G93R missense 0.00000829●●●●●●
58. 69207390 c.156C>G p.D52E missense 0.00000829●●●●●●
59. 69233582 c.1447G>T p.V483L missense 0.00000829●●●●●●
60. 69222628 c.601G>A p.E201K missense 0.00000829●●●●●●
61. 69214125 c.329A>G p.Y110C missense 0.00000829●●●●●●
62. 69233151 c.1016A>C p.D339A missense 0.00000829●●●●●●
63. 69233187 c.1052C>G p.A351G missense 0.00000829●●●●●●
64. 69229731 c.807A>C p.E269D missense 0.00000829●●●●●●
65. 69218398 c.490A>T p.T164S missense 0.00000829●●●●●●
66. 69218351 c.443T>C p.L148P missense 0.00000829●●●●●●
67. 69233288 c.1153G>A p.D385N missense 0.00000829●●●●●●
68. 69210683 c.266G>A p.G89E missense 0.00000829●●●●●●
69. 69233117 c.982T>C p.C328R missense 0.00000829●●●●●●
70. 69229618 c.694G>A p.A232T missense 0.00000829●●●●●●
71. 69222587 c.560G>A p.R187K missense 0.00000829●●●●●●
72. 69222629 c.602A>G p.E201G missense 0.00000829●●●●●●
73. 69233201 c.1066T>G p.S356A missense 0.00000829●●●●●●
74. 69233447 c.1312C>T p.L438F missense 0.00000828●●●●●●
75. 69229636 c.712T>G p.S238A missense 0.00000828●●●●●●
76. 69233530 c.1395G>C p.M465I missense 0.00000828●●●●●●
77. 69233325 c.1190G>A p.S397N missense 0.00000828●●●●●●
78. 69233397 c.1262A>G p.E421G missense 0.00000828●●●●●●
79. 69203065 c.92A>G p.E31G missense 0.00000828●●●●●●
80. 69229705 c.781G>A p.D261N missense 0.00000828●●●●●●
81. 69233456 c.1321A>G p.I441V missense 0.00000828●●●●●●
82. 69233439 c.1304G>A p.S435N missense 0.00000828●●●●●●
83. 69233334 c.1199A>G p.Y400C missense 0.00000828●●●●●●
84. 69203011 c.38C>T p.S13F missense 0.00000828●●●●●●
85. 69229705 c.781G>C p.D261H missense 0.00000828●●●●●●
86. 69233416 c.1281C>G p.D427E missense 0.00000828●●●●●●
87. 69203068 c.95C>A p.T32N missense 0.00000828●●●●●●
88. 69233444 c.1309C>T p.P437S missense 0.00000828●●●●●●
89. 69233370 c.1235G>T p.S412I missense 0.00000828●●●●●●
90. 69203037 c.64A>G p.T22A missense 0.00000828●●●●●●
91. 69233416 c.1281C>A p.D427E missense 0.00000828●●●●●●
92. 69207374 c.140T>C p.V47A missense 0.00000828●●●●●●
93. 69233466 c.1331G>A p.C444Y missense 0.00000828●●●●●●
94. 69233372 c.1237A>G p.S413G missense 0.00000828●●●●●●
95. 69233330 c.1195G>C p.D399H missense 0.00000828●●●●●●
96. 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.