STUB1 missense variants in ExAC

STUB1 gene summary
STUB1 variants in

The table below lists the STUB1 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. 731318 c.326G>A p.S109N missense 0.00415074●●●●●●
2. 731512 c.433A>C p.K145Q missense 0.00070167●●●●●●
3. 731845 c.577G>A p.V193I missense 0.00060824●●●●●●
4. 730668 c.143G>A p.C48Y missense 0.00039391●●●●●●
5. 731855 c.587A>G p.Q196R missense 0.00031120●●●●●●
6. 730549 c.24G>C p.E8D missense 0.00030950●●●●●●
7. 730572 c.47G>A p.G16D missense 0.00016946●●●●●●
8. 731843 c.575A>G p.H192R missense 0.00015232●●●●●●
9. 730608 c.83A>C p.E28A missense 0.00014606●●●●●●
10. 730556 c.31G>A p.A11T missense 0.00012752●●●●●●
11. 731849 c.581G>A p.R194Q missense 0.00010117●●●●●●
12. 731811 c.543G>T p.Q181H missense 0.00009620●●●●●●
13. 730569 c.44C>T p.A15V missense 0.00008940●●●●●●
14. 731813 c.545G>A p.R182Q missense 0.00007839●●●●●●
15. 730671 c.146A>G p.Y49C missense 0.00006817●●●●●●
16. 732391 c.814C>T p.R272W missense 0.00005814●●●●●●
17. 731542 c.463A>G p.I155V missense 0.00005189●●●●●●
18. 731525 c.446G>T p.S149I missense 0.00005161●●●●●●
19. 730656 c.131A>G p.E44G missense 0.00005148●●●●●●
20. 731167 c.175G>A p.V59M missense 0.00004568●●●●●●
21. 730621 c.96G>C p.Q32H missense 0.00004431●●●●●●
22. 732451 c.874G>A p.A292T missense 0.00004156●●●●●●
23. 731821 c.553G>A p.E185K missense 0.00003449●●●●●●
24. 731336 c.344C>T p.A115V missense 0.00003367●●●●●●
25. 731186 c.194A>G p.N65S missense 0.00003134●●●●●●
26. 731189 c.197G>A p.R66Q missense 0.00002872●●●●●●
27. 732033 c.626C>T p.A209V missense 0.00002582●●●●●●
28. 732171 c.676G>A p.D226N missense 0.00002510●●●●●●
29. 732392 c.815G>A p.R272Q missense 0.00002492●●●●●●
30. 731222 c.230A>G p.E77G missense 0.00002413●●●●●●
31. 731600 c.521A>G p.E174G missense 0.00001801●●●●●●
32. 731794 c.526G>A p.E176K missense 0.00001782●●●●●●
33. 732072 c.665G>A p.R222K missense 0.00001748●●●●●●
34. 731266 c.274C>A p.Q92K missense 0.00001722●●●●●●
35. 731528 c.449T>C p.I150T missense 0.00001721●●●●●●
36. 731845 c.577G>T p.V193F missense 0.00001690●●●●●●
37. 731848 c.580C>T p.R194W missense 0.00001687●●●●●●
38. 731339 c.347A>G p.N116S missense 0.00001683●●●●●●
39. 732364 c.787C>T p.R263C missense 0.00001662●●●●●●
40. 732437 c.860A>G p.K287R missense 0.00001662●●●●●●
41. 732238 c.743G>A p.S248N missense 0.00001662●●●●●●
42. 731219 c.227A>C p.H76P missense 0.00001298●●●●●●
43. 731246 c.254G>A p.R85H missense 0.00000925●●●●●●
44. 731597 c.518G>A p.R173H missense 0.00000900●●●●●●
45. 731590 c.511G>A p.A171T missense 0.00000895●●●●●●
46. 731588 c.509C>G p.A170G missense 0.00000894●●●●●●
47. 731803 c.535G>C p.E179Q missense 0.00000883●●●●●●
48. 731804 c.536A>G p.E179G missense 0.00000882●●●●●●
49. 731805 c.537G>C p.E179D missense 0.00000881●●●●●●
50. 731569 c.490T>G p.Y164D missense 0.00000877●●●●●●
51. 731810 c.542A>G p.Q181R missense 0.00000875●●●●●●
52. 731811 c.543G>C p.Q181H missense 0.00000875●●●●●●
53. 732066 c.659A>G p.E220G missense 0.00000873●●●●●●
54. 732065 c.658G>A p.E220K missense 0.00000873●●●●●●
55. 731557 c.478G>A p.E160K missense 0.00000872●●●●●●
56. 731548 c.469C>G p.Q157E missense 0.00000868●●●●●●
57. 732042 c.635A>G p.D212G missense 0.00000863●●●●●●
58. 732038 c.631A>G p.M211V missense 0.00000861●●●●●●
59. 731825 c.557G>A p.G186D missense 0.00000859●●●●●●
60. 731268 c.276G>T p.Q92H missense 0.00000858●●●●●●
61. 731828 c.560A>G p.D187G missense 0.00000856●●●●●●
62. 732029 c.622A>G p.M208V missense 0.00000856●●●●●●
63. 731834 c.566A>C p.D189A missense 0.00000852●●●●●●
64. 731836 c.568G>A p.D190N missense 0.00000851●●●●●●
65. 731491 c.412G>C p.A138P missense 0.00000850●●●●●●
66. 731457 c.378G>T p.E126D missense 0.00000844●●●●●●
67. 731459 c.380A>T p.Q127L missense 0.00000844●●●●●●
68. 731846 c.578T>G p.V193G missense 0.00000844●●●●●●
69. 731462 c.383G>A p.R128Q missense 0.00000844●●●●●●
70. 731444 c.365G>A p.S122N missense 0.00000843●●●●●●
71. 731453 c.374A>G p.K125R missense 0.00000843●●●●●●
72. 731325 c.333T>G p.D111E missense 0.00000842●●●●●●
73. 731858 c.590A>T p.Q197L missense 0.00000840●●●●●●
74. 731869 c.601G>A p.E201K missense 0.00000838●●●●●●
75. 732481 c.904G>A p.D302N missense 0.00000834●●●●●●
76. 732385 c.808G>A p.V270M missense 0.00000831●●●●●●
77. 732197 c.702G>T p.K234N missense 0.00000831●●●●●●
78. 732217 c.722G>A p.R241Q missense 0.00000831●●●●●●
79. 732217 c.722G>C p.R241P missense 0.00000831●●●●●●
80. 732421 c.844C>G p.P282A missense 0.00000831●●●●●●
81. 732252 c.757G>A p.D253N missense 0.00000831●●●●●●
82. 732235 c.740C>T p.P247L missense 0.00000831●●●●●●
83. 732221 c.726G>T p.E242D missense 0.00000831●●●●●●
84. 732255 c.760C>T p.R254C missense 0.00000831●●●●●●
85. 732200 c.705C>G p.I235M missense 0.00000831●●●●●●
86. 732223 c.728C>T p.P243L missense 0.00000831●●●●●●
87. 732261 c.766G>T p.D256Y missense 0.00000831●●●●●●
88. 732245 c.750C>G p.I250M missense 0.00000831●●●●●●
89. 732216 c.721C>G p.R241G missense 0.00000831●●●●●●
90. 732196 c.701A>G p.K234R missense 0.00000831●●●●●●
91. 732404 c.827C>G p.T276S missense 0.00000831●●●●●●
92. 732226 c.731G>A p.C244Y missense 0.00000831●●●●●●

* 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.