CALR3 missense variants in ExAC

CALR3 gene summary
CALR3 variants in

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

* 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.