PTPN11 missense variants in ExAC

PTPN11 gene summary
PTPN11 variants in

The table below lists the PTPN11 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. 112940006 c.1658C>T p.T553M missense 0.00048721●●●●●●
2. 112915779 c.1052G>A p.R351Q missense 0.00047004●●●●●●
3. 112915526 c.925A>G p.I309V missense 0.00041185●●●●●●
4. 112915755 c.1028G>A p.R343Q missense 0.00022264●●●●●●
5. 112915533 c.932T>C p.M311T missense 0.00021417●●●●●●
6. 112884118 c.53A>G p.N18S missense 0.00012355●●●●●●
7. 112924280 c.1226G>C p.G409A missense 0.00009918●●●●●●
8. 112926959 c.1579C>T p.R527C missense 0.00008251●●●●●●
9. 112940030 c.1682C>T p.P561L missense 0.00004951●●●●●●
10. 112892398 c.556C>T p.R186W missense 0.00004944●●●●●●
11. 112910805 c.814G>A p.E272K missense 0.00004193●●●●●●
12. 112910785 c.794G>A p.R265Q missense 0.00004184●●●●●●
13. 112891058 c.392A>G p.K131R missense 0.00004121●●●●●●
14. 112915494 c.893A>G p.N298S missense 0.00004118●●●●●●
15. 112924399 c.1345A>G p.I449V missense 0.00003329●●●●●●
16. 112940026 c.1678C>T p.L560F missense 0.00003301●●●●●●
17. 112940045 c.1697C>T p.T566M missense 0.00003301●●●●●●
18. 112915532 c.931A>G p.M311V missense 0.00003295●●●●●●
19. 112891121 c.455G>A p.R152H missense 0.00003295●●●●●●
20. 112910815 c.824A>C p.N275T missense 0.00002519●●●●●●
21. 112891184 c.518G>T p.R173L missense 0.00002471●●●●●●
22. 112940038 c.1690A>T p.T564S missense 0.00001650●●●●●●
23. 112888157 c.173A>G p.N58S missense 0.00001648●●●●●●
24. 112919909 c.1124A>G p.Y375C missense 0.00001648●●●●●●
25. 112888132 c.148G>A p.A50T missense 0.00001648●●●●●●
26. 112884094 c.29A>G p.N10S missense 0.00001648●●●●●●
27. 112919906 c.1121A>G p.E374G missense 0.00001648●●●●●●
28. 112919975 c.1190C>T p.T397M missense 0.00001648●●●●●●
29. 112926848 c.1468G>A p.V490I missense 0.00001647●●●●●●
30. 112891153 c.487G>A p.G163S missense 0.00001647●●●●●●
31. 112919959 c.1174G>A p.A392T missense 0.00001647●●●●●●
32. 112942513 c.1727G>A p.S576N missense 0.00000875●●●●●●
33. 112942515 c.1729G>A p.A577T missense 0.00000872●●●●●●
34. 112942521 c.1735G>A p.V579I missense 0.00000864●●●●●●
35. 112942552 c.1766A>G p.Q589R missense 0.00000857●●●●●●
36. 112924420 c.1366G>T p.V456L missense 0.00000850●●●●●●
37. 112910838 c.847C>A p.L283M missense 0.00000847●●●●●●
38. 112910818 c.827A>G p.K276R missense 0.00000840●●●●●●
39. 112910792 c.801G>T p.E267D missense 0.00000837●●●●●●
40. 112910793 c.802G>T p.G268C missense 0.00000837●●●●●●
41. 112910770 c.779A>G p.K260R missense 0.00000836●●●●●●
42. 112910773 c.782T>A p.L261H missense 0.00000836●●●●●●
43. 112910776 c.785T>A p.L262H missense 0.00000836●●●●●●
44. 112910748 c.757A>G p.T253A missense 0.00000836●●●●●●
45. 112910779 c.788A>G p.Y263C missense 0.00000836●●●●●●
46. 112924381 c.1327C>T p.H443Y missense 0.00000828●●●●●●
47. 112891035 c.369G>T p.E123D missense 0.00000827●●●●●●
48. 112939969 c.1621G>A p.E541K missense 0.00000827●●●●●●
49. 112893762 c.651C>G p.N217K missense 0.00000826●●●●●●
50. 112915674 c.947C>T p.T316I missense 0.00000826●●●●●●
51. 112924286 c.1232C>A p.T411K missense 0.00000826●●●●●●
52. 112893763 c.652A>G p.T218A missense 0.00000826●●●●●●
53. 112915796 c.1069A>G p.T357A missense 0.00000826●●●●●●
54. 112926974 c.1594G>A p.E532K missense 0.00000826●●●●●●
55. 112893770 c.659G>A p.R220H missense 0.00000826●●●●●●
56. 112939997 c.1649C>T p.A550V missense 0.00000826●●●●●●
57. 112939991 c.1643C>G p.S548C missense 0.00000826●●●●●●
58. 112924286 c.1232C>T p.T411M missense 0.00000826●●●●●●
59. 112915710 c.983T>C p.I328T missense 0.00000825●●●●●●
60. 112915784 c.1057A>C p.I353L missense 0.00000825●●●●●●
61. 112940044 c.1696A>G p.T566A missense 0.00000825●●●●●●
62. 112915698 c.971A>G p.K324R missense 0.00000825●●●●●●
63. 112926958 c.1578G>C p.Q526H missense 0.00000825●●●●●●
64. 112940019 c.1671G>C p.Q557H missense 0.00000825●●●●●●
65. 112915712 c.985G>A p.A329T missense 0.00000825●●●●●●
66. 112926960 c.1580G>A p.R527H missense 0.00000825●●●●●●
67. 112924292 c.1238G>A p.R413K missense 0.00000825●●●●●●
68. 112915680 c.953G>A p.C318Y missense 0.00000825●●●●●●
69. 112892427 c.585A>C p.E195D missense 0.00000825●●●●●●
70. 112915781 c.1054G>C p.V352L missense 0.00000825●●●●●●
71. 112924339 c.1285C>T p.P429S missense 0.00000825●●●●●●
72. 112940044 c.1696A>T p.T566S missense 0.00000825●●●●●●
73. 112915694 c.967C>T p.P323S missense 0.00000825●●●●●●
74. 112915775 c.1048T>G p.S350A missense 0.00000825●●●●●●
75. 112940018 c.1670A>G p.Q557R missense 0.00000825●●●●●●
76. 112926306 c.1439G>A p.R480K missense 0.00000824●●●●●●
77. 112926270 c.1403C>T p.T468M missense 0.00000824●●●●●●
78. 112919935 c.1150C>T p.R384C missense 0.00000824●●●●●●
79. 112888168 c.184T>A p.Y62N missense 0.00000824●●●●●●
80. 112891143 c.477G>C p.E159D missense 0.00000824●●●●●●
81. 112884141 c.76G>A p.D26N missense 0.00000824●●●●●●
82. 112892399 c.557G>A p.R186Q missense 0.00000824●●●●●●
83. 112926851 c.1471C>T p.P491S missense 0.00000824●●●●●●
84. 112888196 c.212T>G p.F71C missense 0.00000824●●●●●●
85. 112884093 c.28A>G p.N10D missense 0.00000824●●●●●●
86. 112884117 c.52A>G p.N18D missense 0.00000824●●●●●●
87. 112919947 c.1162G>A p.V388I missense 0.00000824●●●●●●
88. 112888172 c.188A>G p.Y63C missense 0.00000824●●●●●●
89. 112888127 c.143A>G p.N48S missense 0.00000824●●●●●●
90. 112892414 c.572C>G p.T191R missense 0.00000824●●●●●●
91. 112888273 c.289G>C p.E97Q missense 0.00000824●●●●●●
92. 112926909 c.1529A>G p.Q510R missense 0.00000824●●●●●●
93. 112888221 c.237G>C p.Q79H missense 0.00000824●●●●●●
94. 112891117 c.451G>C p.V151L missense 0.00000824●●●●●●
95. 112919887 c.1102G>A p.V368I missense 0.00000824●●●●●●
96. 112884090 c.25C>G p.P9A missense 0.00000824●●●●●●
97. 112915482 c.881A>G p.D294G missense 0.00000824●●●●●●
98. 112891127 c.461G>C p.G154A missense 0.00000824●●●●●●
99. 112926863 c.1483C>G p.Q495E missense 0.00000824●●●●●●
100. 112915480 c.879C>G p.H293Q missense 0.00000824●●●●●●
101. 112891183 c.517C>T p.R173C missense 0.00000824●●●●●●
102. 112888285 c.301C>G p.P101A missense 0.00000824●●●●●●
103. 112926275 c.1408A>G p.I470V missense 0.00000824●●●●●●
104. 112884129 c.64A>G p.T22A missense 0.00000824●●●●●●
105. 112884091 c.26C>A p.P9Q missense 0.00000824●●●●●●
106. 112884123 c.58C>G p.L20V missense 0.00000824●●●●●●
107. 112926926 c.1546A>G p.M516V missense 0.00000824●●●●●●
108. 112915523 c.922A>G p.N308D 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.