RXRA missense variants in ExAC

RXRA gene summary
RXRA variants in

The table below lists the RXRA 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. 137309155 c.762G>A p.M254I missense 0.00251382●●●●●●
2. 137293514 c.65C>T p.P22L missense 0.00122150●●●●●●
3. 137313523 c.782C>T p.P261L missense 0.00085759●●●●●●
4. 137300095 c.380T>C p.M127T missense 0.00016975●●●●●●
5. 137300076 c.361G>A p.A121T missense 0.00011895●●●●●●
6. 137300016 c.301G>A p.V101I missense 0.00011742●●●●●●
7. 137320995 c.952A>G p.I318V missense 0.00006675●●●●●●
8. 137309132 c.739G>A p.E247K missense 0.00005811●●●●●●
9. 137293637 c.188C>T p.P63L missense 0.00005003●●●●●●
10. 137300056 c.341A>G p.N114S missense 0.00004271●●●●●●
11. 137293517 c.68C>T p.T23M missense 0.00004238●●●●●●
12. 137293593 c.144T>G p.H48Q missense 0.00004168●●●●●●
13. 137309039 c.646A>G p.N216D missense 0.00003355●●●●●●
14. 137293580 c.131C>T p.P44L missense 0.00003344●●●●●●
15. 137328417 c.1346C>A p.T449N missense 0.00003301●●●●●●
16. 137313595 c.854G>A p.R285Q missense 0.00002566●●●●●●
17. 137293523 c.74G>A p.R25Q missense 0.00002533●●●●●●
18. 137293531 c.82A>G p.M28V missense 0.00002528●●●●●●
19. 137293682 c.233C>T p.S78L missense 0.00002523●●●●●●
20. 137309041 c.648C>A p.N216K missense 0.00002514●●●●●●
21. 137293573 c.124G>A p.G42S missense 0.00002511●●●●●●
22. 137309073 c.680A>G p.N227S missense 0.00002491●●●●●●
23. 137325951 c.1139C>G p.S380C missense 0.00001744●●●●●●
24. 137300043 c.328C>A p.P110T missense 0.00001744●●●●●●
25. 137300046 c.331C>G p.L111V missense 0.00001733●●●●●●
26. 137293715 c.266C>G p.T89S missense 0.00001726●●●●●●
27. 137300061 c.346G>A p.V116I missense 0.00001704●●●●●●
28. 137300070 c.355G>A p.V119I missense 0.00001700●●●●●●
29. 137300086 c.371C>T p.S124L missense 0.00001697●●●●●●
30. 137321059 c.1016G>A p.S339N missense 0.00001693●●●●●●
31. 137325974 c.1162G>A p.E388K missense 0.00001690●●●●●●
32. 137325984 c.1172C>T p.A391V missense 0.00001683●●●●●●
33. 137323827 c.1120G>A p.V374I missense 0.00001683●●●●●●
34. 137326026 c.1214A>G p.K405R missense 0.00001679●●●●●●
35. 137323821 c.1114G>A p.A372T missense 0.00001676●●●●●●
36. 137320971 c.928A>G p.I310V missense 0.00001672●●●●●●
37. 137309165 c.772C>T p.P258S missense 0.00001671●●●●●●
38. 137320977 c.934T>G p.S312A missense 0.00001670●●●●●●
39. 137293634 c.185G>A p.G62D missense 0.00001668●●●●●●
40. 137293631 c.182T>C p.M61T missense 0.00001668●●●●●●
41. 137293630 c.181A>G p.M61V missense 0.00001667●●●●●●
42. 137293597 c.148C>T p.P50S missense 0.00001667●●●●●●
43. 137323801 c.1094C>T p.T365M missense 0.00001666●●●●●●
44. 137309154 c.761T>C p.M254T missense 0.00001665●●●●●●
45. 137309067 c.674G>A p.S225N missense 0.00001663●●●●●●
46. 137309085 c.692C>T p.P231L missense 0.00001660●●●●●●
47. 137309085 c.692C>G p.P231R missense 0.00001660●●●●●●
48. 137300002 c.287C>T p.S96L missense 0.00000911●●●●●●
49. 137313528 c.787G>A p.D263N missense 0.00000902●●●●●●
50. 137313543 c.802A>G p.I268V missense 0.00000897●●●●●●
51. 137300028 c.313G>A p.E105K missense 0.00000891●●●●●●
52. 137300041 c.326C>T p.P109L missense 0.00000877●●●●●●
53. 137300137 c.422G>A p.R141H missense 0.00000875●●●●●●
54. 137300130 c.415G>A p.G139R missense 0.00000868●●●●●●
55. 137300047 c.332T>C p.L111P missense 0.00000865●●●●●●
56. 137300124 c.409A>G p.I137V missense 0.00000863●●●●●●
57. 137309018 c.625C>T p.R209W missense 0.00000862●●●●●●
58. 137300948 c.593T>C p.M198T missense 0.00000860●●●●●●
59. 137326047 c.1235C>T p.P412L missense 0.00000852●●●●●●
60. 137321073 c.1030G>A p.A344T missense 0.00000852●●●●●●
61. 137300107 c.392C>T p.T131I missense 0.00000851●●●●●●
62. 137293702 c.253C>G p.L85V missense 0.00000850●●●●●●
63. 137326043 c.1231C>G p.Q411E missense 0.00000849●●●●●●
64. 137293513 c.64C>T p.P22S missense 0.00000848●●●●●●
65. 137300926 c.571C>T p.R191C missense 0.00000848●●●●●●
66. 137325971 c.1159G>T p.A387S missense 0.00000848●●●●●●
67. 137293696 c.247C>A p.P83T missense 0.00000847●●●●●●
68. 137293691 c.242C>A p.T81N missense 0.00000845●●●●●●
69. 137321058 c.1015A>C p.S339R missense 0.00000845●●●●●●
70. 137293538 c.89C>T p.A30V missense 0.00000844●●●●●●
71. 137293544 c.95C>T p.S32L missense 0.00000843●●●●●●
72. 137293553 c.104C>T p.P35L missense 0.00000841●●●●●●
73. 137300911 c.556C>T p.R186W missense 0.00000841●●●●●●
74. 137309037 c.644G>A p.R215Q missense 0.00000840●●●●●●
75. 137293556 c.107C>A p.S36Y missense 0.00000840●●●●●●
76. 137326022 c.1210T>A p.C404S missense 0.00000839●●●●●●
77. 137309172 c.779C>T p.S260L missense 0.00000838●●●●●●
78. 137293664 c.215T>C p.M72T missense 0.00000837●●●●●●
79. 137293664 c.215T>G p.M72R missense 0.00000837●●●●●●
80. 137293663 c.214A>G p.M72V missense 0.00000837●●●●●●
81. 137321037 c.994G>A p.V332I missense 0.00000837●●●●●●
82. 137300899 c.544C>T p.R182W missense 0.00000836●●●●●●
83. 137313625 c.884A>T p.D295V missense 0.00000836●●●●●●
84. 137313631 c.890A>G p.Q297R missense 0.00000835●●●●●●
85. 137293651 c.202A>G p.I68V missense 0.00000835●●●●●●
86. 137323759 c.1052C>T p.T351M missense 0.00000835●●●●●●
87. 137293651 c.202A>T p.I68F missense 0.00000835●●●●●●
88. 137300858 c.503C>T p.T168I missense 0.00000835●●●●●●
89. 137321014 c.971T>A p.I324N missense 0.00000835●●●●●●
90. 137300892 c.537T>G p.I179M missense 0.00000835●●●●●●
91. 137320981 c.938T>C p.F313S missense 0.00000835●●●●●●
92. 137293591 c.142C>T p.H48Y missense 0.00000834●●●●●●
93. 137320998 c.955G>A p.A319T missense 0.00000834●●●●●●
94. 137293628 c.179G>T p.G60V missense 0.00000834●●●●●●
95. 137293632 c.183G>A p.M61I missense 0.00000834●●●●●●
96. 137323771 c.1064C>G p.S355C missense 0.00000833●●●●●●
97. 137323801 c.1094C>A p.T365K missense 0.00000833●●●●●●
98. 137293621 c.172A>G p.I58V missense 0.00000833●●●●●●
99. 137309160 c.767T>C p.L256P missense 0.00000833●●●●●●
100. 137323797 c.1090A>G p.K364E missense 0.00000833●●●●●●
101. 137293627 c.178G>A p.G60S missense 0.00000833●●●●●●
102. 137309058 c.665C>T p.S222L missense 0.00000833●●●●●●
103. 137309151 c.758A>T p.N253I missense 0.00000832●●●●●●
104. 137309069 c.676G>A p.A226T missense 0.00000831●●●●●●
105. 137309139 c.746A>G p.Y249C missense 0.00000831●●●●●●
106. 137309141 c.748G>A p.V250M missense 0.00000831●●●●●●
107. 137309075 c.682G>A p.E228K missense 0.00000830●●●●●●
108. 137309087 c.694G>A p.V232M missense 0.00000830●●●●●●
109. 137309126 c.733A>G p.K245E missense 0.00000830●●●●●●
110. 137328444 c.1373C>T p.P458L missense 0.00000827●●●●●●
111. 137328450 c.1379A>G p.Q460R missense 0.00000827●●●●●●
112. 137328452 c.1381A>G p.M461V missense 0.00000827●●●●●●
113. 137328426 c.1355T>C p.M452T missense 0.00000826●●●●●●
114. 137328338 c.1267C>G p.P423A missense 0.00000825●●●●●●
115. 137328339 c.1268C>T p.P423L missense 0.00000825●●●●●●
116. 137328357 c.1286G>T p.G429V missense 0.00000825●●●●●●

* 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.