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