C21ORF7 variants in ExAC

C21ORF7 gene summary
C21ORF7 variants in

The table below lists the C21ORF7 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. 30464866 c.334A>G p.I112V missense 0.00687820●●●●●●
2. 30464045 c.190C>T p.P64S missense 0.00177239●●●●●●
3. 30464878 c.346G>A p.V116M missense 0.00071659●●●●●●
4. 30464031 c.176T>A p.L59Q missense 0.00027990●●●●●●
5. 30458221 c.40G>A p.E14K missense 0.00020591●●●●●●
6. 30464055 c.200T>C p.F67S missense 0.00018674●●●●●●
7. 30464016 c.161T>C p.V54A missense 0.00018671●●●●●●
8. 30547097 c.613C>T p.R205W missense 0.00014006●●●●●●
9. 30464881 c.349G>A p.E117K missense 0.00010708●●●●●●
10. 30458245 c.57+7C>T splice site 0.00009884●●●●●●
11. 30463994 c.139G>T p.E47X nonsense 0.00009395●●●●●●
12. 30464004 c.149A>G p.Y50C missense 0.00009370●●●●●●
13. 30464061 c.206T>C p.F69S missense 0.00009348●●●●●●
14. 30464027 c.172C>T p.H58Y missense 0.00009334●●●●●●
15. 30464794 c.262A>G p.M88V missense 0.00009060●●●●●●
16. 30521559 c.420C>A p.D140E missense 0.00004944●●●●●●
17. 30521529 c.390C>G p.D130E missense 0.00004944●●●●●●
18. 30464890 c.358A>G p.S120G missense 0.00004118●●●●●●
19. 30547029 c.549-4T>G splice site 0.00003300●●●●●●
20. 30521569 c.430C>T p.Q144X nonsense 0.00003297●●●●●●
21. 30547128 c.644G>A p.R215Q missense 0.00003297●●●●●●
22. 0 c.-48-2A>G essential splice site 0.00003296●●●●●●
23. 30547106 c.622G>A p.E208K missense 0.00003296●●●●●●
24. 30458246 c.57+8C>T splice site 0.00003295●●●●●●
25. 30547023 c.549-10G>A splice site 0.00002477●●●●●●
26. 30547149 c.665C>G p.S222C missense 0.00002475●●●●●●
27. 30532275 c.446G>A p.C149Y missense 0.00002473●●●●●●
28. 30532278 c.449A>G p.H150R missense 0.00002473●●●●●●
29. 30547098 c.614G>A p.R205Q missense 0.00002472●●●●●●
30. 30547116 c.632C>T p.T211M missense 0.00002472●●●●●●
31. 30532320 c.491A>T p.Q164L missense 0.00002472●●●●●●
32. 30521510 c.371A>G p.D124G missense 0.00002472●●●●●●
33. 30464782 c.250A>G p.T84A missense 0.00002471●●●●●●
34. 30547206 c.722C>T p.S241L missense 0.00001806●●●●●●
35. 30547178 c.694C>T p.R232X nonsense 0.00001666●●●●●●
36. 30458135 c.-47T>G splice site 0.00001648●●●●●●
37. 30532311 c.482A>C p.Q161P missense 0.00001648●●●●●●
38. 30458225 c.44C>A p.A15E missense 0.00001647●●●●●●
39. 30464783 c.251C>T p.T84I missense 0.00001647●●●●●●
40. 30458238 c.57G>A p.K19K splice site 0.00001647●●●●●●
41. 30458182 c.1A>G p.Met1? missense 0.00001647●●●●●●
42. 30458242 c.57+4T>G splice site 0.00001647●●●●●●
43. 30464836 c.304G>A p.D102N missense 0.00001647●●●●●●
44. 30464757 c.228-3T>G splice site 0.00001647●●●●●●
45. 30547191 c.707A>G p.Q236R missense 0.00000848●●●●●●
46. 30532384 c.548+7A>G splice site 0.00000839●●●●●●
47. 30532381 c.548+4A>G splice site 0.00000836●●●●●●
48. 30532378 c.548+1_548+2insT essential splice site 0.00000833●●●●●●
49. 30547170 c.686A>G p.E229G missense 0.00000829●●●●●●
50. 30547163 c.679C>T p.Q227X nonsense 0.00000827●●●●●●
51. 30532256 c.433-6G>T splice site 0.00000826●●●●●●
52. 30547034 c.550A>G p.K184E missense 0.00000825●●●●●●
53. 30547031 c.549-2A>T essential splice site 0.00000825●●●●●●
54. 30547143 c.659C>G p.A220G missense 0.00000825●●●●●●
55. 30532266 c.437T>C p.L146P missense 0.00000825●●●●●●
56. 30547151 c.667_668insAAT p.Gln223_Cys224insTer nonsense 0.00000825●●●●●●
57. 30547146 c.662A>G p.Q221R missense 0.00000825●●●●●●
58. 30532269 c.440C>T p.P147L missense 0.00000825●●●●●●
59. 30532327 c.498_500delAGA p.Glu168del inframe 0.00000824●●●●●●
60. 30547090 c.606G>T p.E202D missense 0.00000824●●●●●●
61. 30464843 c.311T>A p.M104K missense 0.00000824●●●●●●
62. 30458208 c.27A>C p.E9D missense 0.00000824●●●●●●
63. 30532308 c.479A>G p.K160R missense 0.00000824●●●●●●
64. 30521518 c.379C>G p.P127A missense 0.00000824●●●●●●
65. 30464896 c.364C>A p.P122T missense 0.00000824●●●●●●
66. 30464825 c.293T>A p.L98X nonsense 0.00000824●●●●●●
67. 30521511 c.372T>C splice site 0.00000824●●●●●●
68. 30547131 c.647C>T p.T216M missense 0.00000824●●●●●●
69. 30464867 c.335T>C p.I112T missense 0.00000824●●●●●●
70. 30458243 c.57+5G>A splice site 0.00000824●●●●●●
71. 30521531 c.392C>A p.S131Y missense 0.00000824●●●●●●
72. 30464902 c.370G>A p.D124N missense 0.00000824●●●●●●
73. 30464830 c.298A>G p.T100A missense 0.00000824●●●●●●
74. 30458213 c.32T>C p.M11T missense 0.00000824●●●●●●
75. 30532278 c.449_450insTGAC p.Ser152Ter frameshift 0.00000824●●●●●●
76. 30521515 c.376A>G p.T126A missense 0.00000824●●●●●●
77. 30521571 c.432G>A splice site 0.00000824●●●●●●
78. 30547067 c.583A>G p.K195E missense 0.00000824●●●●●●
79. 30532296 c.467T>C p.M156T missense 0.00000824●●●●●●
80. 30521549 c.410C>A p.P137Q missense 0.00000824●●●●●●
81. 30464791 c.259G>A p.A87T missense 0.00000824●●●●●●
82. 30458220 c.39C>A p.N13K missense 0.00000824●●●●●●
83. 30458183 c.2T>C p.Met1? missense 0.00000824●●●●●●
84. 30547044 c.560T>C p.I187T missense 0.00000824●●●●●●
85. 30532296 c.467T>A p.M156K missense 0.00000824●●●●●●
86. 30464887 c.355C>T p.P119S 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.