CALR3 variants in ExAC

CALR3 gene summary
CALR3 variants in

The table below lists the CALR3 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. 16601168 c.397+10C>T splice site 0.12205555●●●●●●
2. 16593359 c.820G>A p.V274I missense 0.03012058●●●●●●
3. 16590030 c.1067G>T p.R356L missense 0.00220743●●●●●●
4. 16593329 c.850G>A p.D284N missense 0.00168026●●●●●●
5. 16596074 c.398-6T>C splice site 0.00130117●●●●●●
6. 16590094 c.1012-9T>C splice site 0.00089845●●●●●●
7. 16601330 c.245A>G p.K82R missense 0.00056831●●●●●●
8. 16606630 c.125A>G p.N42S missense 0.00042020●●●●●●
9. 16593331 c.848C>T p.T283I missense 0.00040359●●●●●●
10. 16589983 c.1114G>C p.E372Q missense 0.00025534●●●●●●
11. 16594932 c.493-6A>G splice site 0.00019020●●●●●●
12. 16601360 c.215G>A p.G72D missense 0.00018120●●●●●●
13. 16593514 c.761C>T p.P254L missense 0.00017340●●●●●●
14. 16596063 c.403G>A p.D135N missense 0.00010171●●●●●●
15. 16606844 c.91+6G>A splice site 0.00009562●●●●●●
16. 16596072 c.398-4G>A splice site 0.00009458●●●●●●
17. 16593551 c.724G>A p.D242N missense 0.00009159●●●●●●
18. 16606920 c.21G>C p.Q7H missense 0.00008195●●●●●●
19. 16606874 c.67T>A p.F23I missense 0.00007633●●●●●●
20. 16590028 c.1069G>A p.E357K missense 0.00005766●●●●●●
21. 16606940 c.1A>G p.Met1? missense 0.00005564●●●●●●
22. 16594855 c.564delT p.Gln189SerfsTer8 frameshift 0.00004122●●●●●●
23. 16606592 c.163A>G p.K55E missense 0.00004121●●●●●●
24. 16606613 c.142C>T p.H48Y missense 0.00004120●●●●●●
25. 16601187 c.388A>G p.I130V missense 0.00004119●●●●●●
26. 16590031 c.1066C>T p.R356C missense 0.00004118●●●●●●
27. 16593395 c.787-3C>G splice site 0.00004118●●●●●●
28. 16601336 c.239G>A p.R80H missense 0.00004118●●●●●●
29. 16596079 c.398-11C>A splice site 0.00003854●●●●●●
30. 16591513 c.923G>T p.R308I missense 0.00003503●●●●●●
31. 16606925 c.16G>A p.V6I missense 0.00003385●●●●●●
32. 16593505 c.770A>C p.Q257P missense 0.00003300●●●●●●
33. 16594899 c.520C>A p.L174I missense 0.00003299●●●●●●
34. 16589951 c.1146T>G p.N382K missense 0.00003295●●●●●●
35. 16601357 c.218G>A p.R73Q missense 0.00003295●●●●●●
36. 16593270 c.909G>T p.E303D missense 0.00003295●●●●●●
37. 16590069 c.1028T>C p.M343T missense 0.00003295●●●●●●
38. 16606907 c.34T>G p.C12G missense 0.00003150●●●●●●
39. 16595974 c.492_492+4delGGTAA essential splice site 0.00002706●●●●●●
40. 16594752 c.667A>G p.N223D missense 0.00002538●●●●●●
41. 16593542 c.733G>A p.G245S missense 0.00002489●●●●●●
42. 16594778 c.641C>T p.S214L missense 0.00002483●●●●●●
43. 16594919 c.500G>A p.G167D missense 0.00002477●●●●●●
44. 16594911 c.508C>T p.H170Y missense 0.00002475●●●●●●
45. 16593489 c.786G>T p.Q262H missense 0.00002473●●●●●●
46. 16589983 c.1114G>T p.E372X nonsense 0.00002471●●●●●●
47. 16593388 c.791G>T p.G264V missense 0.00002471●●●●●●
48. 16590003 c.1094C>T p.S365L missense 0.00002471●●●●●●
49. 16593347 c.832C>T p.R278C missense 0.00002471●●●●●●
50. 16589983 c.1114G>A p.E372K missense 0.00002471●●●●●●
51. 16601252 c.323G>C p.G108A missense 0.00002471●●●●●●
52. 16606846 c.91+4A>T splice site 0.00002366●●●●●●
53. 16606859 c.82C>G p.L28V missense 0.00002163●●●●●●
54. 16606938 c.3G>T p.Met1? missense 0.00001834●●●●●●
55. 16606880 c.61G>A p.V21I missense 0.00001823●●●●●●
56. 16596048 c.418G>T p.D140Y missense 0.00001810●●●●●●
57. 16595972 c.492+2T>G essential splice site 0.00001796●●●●●●
58. 16591519 c.919-2A>C essential splice site 0.00001795●●●●●●
59. 16606886 c.55G>T p.A19S missense 0.00001690●●●●●●
60. 16591467 c.969G>C p.E323D missense 0.00001659●●●●●●
61. 16591429 c.1007C>A p.T336N missense 0.00001656●●●●●●
62. 16594778 c.641C>G p.S214W missense 0.00001655●●●●●●
63. 16594800 c.619A>G p.K207E missense 0.00001651●●●●●●
64. 16594852 c.567_570delGTCA p.Ser190LeufsTer6 frameshift 0.00001649●●●●●●
65. 16601167 c.397+11G>T splice site 0.00001648●●●●●●
66. 16606642 c.113T>G p.L38W missense 0.00001648●●●●●●
67. 16601327 c.248C>T p.P83L missense 0.00001647●●●●●●
68. 16601351 c.224A>G p.Y75C missense 0.00001647●●●●●●
69. 16601358 c.217C>G p.R73G missense 0.00001647●●●●●●
70. 16590061 c.1036A>G p.I346V missense 0.00001647●●●●●●
71. 16601277 c.298G>A p.E100K missense 0.00001647●●●●●●
72. 16601263 c.312C>A p.D104E missense 0.00001647●●●●●●
73. 16590030 c.1067G>A p.R356H missense 0.00001647●●●●●●
74. 16590010 c.1087C>G p.L363V missense 0.00001647●●●●●●
75. 16593391 c.788A>G p.D263G missense 0.00001647●●●●●●
76. 16593319 c.860C>T p.T287M missense 0.00001647●●●●●●
77. 16593316 c.863A>G p.Q288R missense 0.00001647●●●●●●
78. 16601337 c.238C>T p.R80C missense 0.00001647●●●●●●
79. 16606921 c.20A>C p.Q7P missense 0.00001646●●●●●●
80. 16606919 c.22C>T p.L8F missense 0.00001631●●●●●●
81. 16606912 c.29C>T p.A10V missense 0.00001619●●●●●●
82. 16606913 c.28G>A p.A10T missense 0.00001606●●●●●●
83. 16606910 c.31A>G p.I11V missense 0.00001588●●●●●●
84. 16606907 c.34T>C p.C12R missense 0.00001575●●●●●●
85. 16591524 c.919-7T>A splice site 0.00000917●●●●●●
86. 16595968 c.492+6T>C splice site 0.00000903●●●●●●
87. 16596044 c.422T>C p.I141T missense 0.00000897●●●●●●
88. 16595978 c.488G>A p.C163Y missense 0.00000892●●●●●●
89. 16596001 c.465C>G p.H155Q missense 0.00000882●●●●●●
90. 16596011 c.455A>C p.N152T missense 0.00000880●●●●●●
91. 16594741 c.678G>A splice site 0.00000879●●●●●●
92. 16594741 c.678G>T p.Q226H missense 0.00000879●●●●●●
93. 16594746 c.673G>T p.A225S missense 0.00000862●●●●●●
94. 16591496 c.940G>T p.D314Y missense 0.00000845●●●●●●
95. 16594761 c.658A>G p.T220A missense 0.00000836●●●●●●
96. 16593552 c.723C>A p.S241R missense 0.00000834●●●●●●
97. 16591475 c.961G>A p.D321N missense 0.00000832●●●●●●
98. 16591418 c.1011+7A>G splice site 0.00000830●●●●●●
99. 16594773 c.646G>A p.D216N missense 0.00000829●●●●●●
100. 16591425 c.1011G>A splice site 0.00000828●●●●●●
101. 16591433 c.1003G>A p.E335K missense 0.00000828●●●●●●
102. 16606557 c.193+5G>T splice site 0.00000828●●●●●●
103. 16606561 c.193+1G>A essential splice site 0.00000827●●●●●●
104. 16591444 c.992C>T p.A331V missense 0.00000827●●●●●●
105. 16593532 c.743A>C p.D248A missense 0.00000827●●●●●●
106. 16593533 c.742G>A p.D248N missense 0.00000827●●●●●●
107. 16594787 c.632C>T p.P211L missense 0.00000826●●●●●●
108. 16593517 c.758C>T p.A253V missense 0.00000826●●●●●●
109. 16594926 c.493G>T p.V165F missense 0.00000826●●●●●●
110. 16594793 c.626C>T p.T209M missense 0.00000826●●●●●●
111. 16593521 c.754C>T p.P252S missense 0.00000826●●●●●●
112. 16591459 c.977A>G p.D326G missense 0.00000826●●●●●●
113. 16606670 c.92-7C>G splice site 0.00000826●●●●●●
114. 16606669 c.92-6C>A splice site 0.00000826●●●●●●
115. 16594919 c.500G>T p.G167V missense 0.00000826●●●●●●
116. 16594811 c.608C>T p.T203I missense 0.00000825●●●●●●
117. 16594902 c.517A>G p.T173A missense 0.00000825●●●●●●
118. 16594903 c.516C>A p.Tyr172Ter nonsense 0.00000825●●●●●●
119. 16594818 c.601A>C p.N201H missense 0.00000825●●●●●●
120. 16594911 c.508C>A p.H170N missense 0.00000825●●●●●●
121. 16591464 c.972C>A p.Y324X nonsense 0.00000825●●●●●●
122. 16606618 c.137T>C p.F46S missense 0.00000824●●●●●●
123. 16593320 c.859A>T p.T287S missense 0.00000824●●●●●●
124. 16593296 c.883G>A p.E295K missense 0.00000824●●●●●●
125. 16589982 c.1115A>G p.E372G missense 0.00000824●●●●●●
126. 16590058 c.1039C>T p.Q347X nonsense 0.00000824●●●●●●
127. 16593392 c.787G>C p.D263H missense 0.00000824●●●●●●
128. 16601212 c.363C>G p.N121K missense 0.00000824●●●●●●
129. 16601267 c.308T>G p.M103R missense 0.00000824●●●●●●
130. 16601261 c.314G>A p.C105Y missense 0.00000824●●●●●●
131. 16601344 c.231delC p.Ser78LeufsTer20 frameshift 0.00000824●●●●●●
132. 16606585 c.170A>G p.Y57C missense 0.00000824●●●●●●
133. 16590038 c.1059G>C p.K353N missense 0.00000824●●●●●●
134. 16590087 c.1012-2A>T essential splice site 0.00000824●●●●●●
135. 16606586 c.169T>C p.Y57H missense 0.00000824●●●●●●
136. 16606628 c.127G>A p.D43N missense 0.00000824●●●●●●
137. 16601287 c.288delA p.V97*fs*1 frameshift 0.00000824●●●●●●
138. 16601328 c.247C>G p.P83A missense 0.00000824●●●●●●
139. 16593341 c.838A>T p.M280L missense 0.00000824●●●●●●
140. 16590068 c.1029G>A p.M343I missense 0.00000824●●●●●●
141. 16601240 c.335T>C p.V112A missense 0.00000824●●●●●●
142. 16589959 c.1138A>G p.R380G missense 0.00000824●●●●●●
143. 16606603 c.152T>G p.L51R missense 0.00000824●●●●●●
144. 16593390 c.789T>A p.D263E missense 0.00000824●●●●●●
145. 16601363 c.212A>G p.N71S missense 0.00000824●●●●●●
146. 16589950 c.1147G>A p.E383K missense 0.00000824●●●●●●
147. 16593305 c.874T>C p.S292P missense 0.00000824●●●●●●
148. 16601198 c.377C>T p.S126L missense 0.00000824●●●●●●
149. 16601358 c.217C>T p.R73X nonsense 0.00000824●●●●●●
150. 16593375 c.804A>T p.E268D missense 0.00000824●●●●●●
151. 16601249 c.326A>G p.Y109C missense 0.00000824●●●●●●
152. 16606589 c.166T>C p.F56L missense 0.00000824●●●●●●
153. 16593484 c.786+5G>A splice site 0.00000824●●●●●●
154. 16606594 c.161G>A p.G54D missense 0.00000824●●●●●●
155. 16601383 c.194-2A>G essential splice site 0.00000824●●●●●●
156. 16589968 c.1129C>G p.Q377E missense 0.00000824●●●●●●
157. 16601301 c.274G>C p.V92L missense 0.00000824●●●●●●
158. 16601208 c.367A>G p.N123D missense 0.00000824●●●●●●
159. 16601178 c.397G>T p.G133X nonsense 0.00000824●●●●●●
160. 16590031 c.1066C>G p.R356G missense 0.00000824●●●●●●
161. 16594839 c.580G>A p.G194S missense 0.00000824●●●●●●
162. 16589947 c.1150C>T p.L384F missense 0.00000824●●●●●●
163. 16606645 c.110G>A p.W37X nonsense 0.00000824●●●●●●
164. 16601376 c.199C>T p.Q67X nonsense 0.00000824●●●●●●
165. 16593379 c.800C>T p.P267L missense 0.00000824●●●●●●
166. 16601266 c.309G>A p.M103I missense 0.00000824●●●●●●
167. 16601256 c.319G>T p.G107W missense 0.00000824●●●●●●
168. 16601307 c.268A>C p.T90P missense 0.00000824●●●●●●
169. 16590010 c.1087C>A p.L363M 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.