SGCB variants in ExAC

SGCB gene summary
SGCB variants in

The table below lists the SGCB 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. 52890281 c.799C>T p.R267C missense 0.00221852●●●●●●
2. 52899591 c.243+6T>A splice site 0.00098115●●●●●●
3. 52904395 c.31C>G p.Q11E missense 0.00074294●●●●●●
4. 52899748 c.92G>T p.S31I missense 0.00062601●●●●●●
5. 52890137 c.943G>A p.G315R missense 0.00055199●●●●●●
6. 52895021 c.496A>G p.I166V missense 0.00043687●●●●●●
7. 52894979 c.538T>C p.F180L missense 0.00025546●●●●●●
8. 52895932 c.341C>T p.S114F missense 0.00023063●●●●●●
9. 52890239 c.841G>A p.D281N missense 0.00021422●●●●●●
10. 52899689 c.151C>T p.R51C missense 0.00014828●●●●●●
11. 52895905 c.368A>C p.Y123S missense 0.00014003●●●●●●
12. 52890286 c.794C>T p.T265I missense 0.00012374●●●●●●
13. 52890275 c.805C>T p.P269S missense 0.00010719●●●●●●
14. 52895074 c.443A>G p.Q148R missense 0.00009944●●●●●●
15. 52890295 c.785T>C p.M262T missense 0.00008262●●●●●●
16. 52899743 c.97A>G p.N33D missense 0.00006589●●●●●●
17. 52899652 c.188A>G p.N63S missense 0.00005767●●●●●●
18. 52890247 c.833G>A p.G278D missense 0.00004944●●●●●●
19. 52890133 c.947A>G p.N316S missense 0.00004943●●●●●●
20. 52890312 c.768C>G p.I256M missense 0.00004173●●●●●●
21. 52895015 c.502A>G p.M168V missense 0.00004121●●●●●●
22. 52895854 c.419A>G p.N140S missense 0.00004120●●●●●●
23. 52894207 c.680G>A p.R227H missense 0.00004119●●●●●●
24. 52890230 c.850C>T p.R284C missense 0.00003296●●●●●●
25. 52896002 c.271C>T p.R91C missense 0.00003296●●●●●●
26. 52890145 c.935A>G p.N312S missense 0.00003295●●●●●●
27. 52895881 c.392G>A p.R131Q missense 0.00003295●●●●●●
28. 52894208 c.679C>T p.R227C missense 0.00003295●●●●●●
29. 52890280 c.800G>A p.R267H missense 0.00002474●●●●●●
30. 52896022 c.251T>C p.L84P missense 0.00002473●●●●●●
31. 52890224 c.856A>G p.K286E missense 0.00002472●●●●●●
32. 52894999 c.518C>T p.P173L missense 0.00002472●●●●●●
33. 52899776 c.64A>G p.M22V missense 0.00002471●●●●●●
34. 52894160 c.727A>G p.M243V missense 0.00002471●●●●●●
35. 52890178 c.902C>T p.T301I missense 0.00002471●●●●●●
36. 52895086 c.431T>C p.I144T missense 0.00001677●●●●●●
37. 52895087 c.430A>G p.I144V missense 0.00001677●●●●●●
38. 52896029 c.244A>G p.I82V missense 0.00001650●●●●●●
39. 52894896 c.621G>A splice site 0.00001649●●●●●●
40. 52894916 c.601C>T p.Q201X nonsense 0.00001649●●●●●●
41. 52894911 c.606G>C p.K202N missense 0.00001649●●●●●●
42. 52894219 c.668G>A p.R223H missense 0.00001648●●●●●●
43. 52899649 c.191T>C p.L64S missense 0.00001648●●●●●●
44. 52899688 c.152G>A p.R51H missense 0.00001648●●●●●●
45. 52894135 c.752C>T p.A251V missense 0.00001648●●●●●●
46. 52890262 c.818G>A p.S273N missense 0.00001648●●●●●●
47. 52899700 c.140T>C p.I47T missense 0.00001648●●●●●●
48. 52894973 c.544A>C p.T182P missense 0.00001648●●●●●●
49. 52890199 c.881C>T p.T294M missense 0.00001647●●●●●●
50. 52890178 c.902C>G p.T301S missense 0.00001647●●●●●●
51. 52895973 c.300G>A p.M100I missense 0.00001647●●●●●●
52. 52899755 c.85A>T p.R29X nonsense 0.00001647●●●●●●
53. 52899772 c.68G>A p.R23H missense 0.00001647●●●●●●
54. 52890329 c.754-3T>C splice site 0.00000876●●●●●●
55. 52890328 c.754-2A>G essential splice site 0.00000868●●●●●●
56. 52895095 c.430-8T>C splice site 0.00000850●●●●●●
57. 52890317 c.763A>G p.I255V missense 0.00000840●●●●●●
58. 52895086 c.431T>G p.I144S missense 0.00000838●●●●●●
59. 52894267 c.622-2A>G essential splice site 0.00000838●●●●●●
60. 52895084 c.433G>A p.V145I missense 0.00000835●●●●●●
61. 52899602 c.238T>G p.L80V missense 0.00000829●●●●●●
62. 52899604 c.236A>G p.N79S missense 0.00000828●●●●●●
63. 52894255 c.632A>G p.N211S missense 0.00000828●●●●●●
64. 52890299 c.781G>C p.V261L missense 0.00000827●●●●●●
65. 52894904 c.613A>G p.T205A missense 0.00000825●●●●●●
66. 52899614 c.226G>A p.A76T missense 0.00000825●●●●●●
67. 52895038 c.479C>T p.T160I missense 0.00000825●●●●●●
68. 52890277 c.803T>C p.L268P missense 0.00000825●●●●●●
69. 52894904 c.613A>T p.T205S missense 0.00000825●●●●●●
70. 52894901 c.616G>A p.E206K missense 0.00000825●●●●●●
71. 52899676 c.164C>T p.T55I missense 0.00000824●●●●●●
72. 52894930 c.587A>G p.K196R missense 0.00000824●●●●●●
73. 52894151 c.736A>T p.N246Y missense 0.00000824●●●●●●
74. 52890151 c.929C>T p.S310L missense 0.00000824●●●●●●
75. 52894192 c.695T>C p.V232A missense 0.00000824●●●●●●
76. 52890271 c.809G>C p.S270T missense 0.00000824●●●●●●
77. 52895974 c.299T>A p.M100K missense 0.00000824●●●●●●
78. 52899707 c.133A>G p.I45V missense 0.00000824●●●●●●
79. 52895900 c.373A>G p.S125G missense 0.00000824●●●●●●
80. 52895894 c.379G>A p.V127I missense 0.00000824●●●●●●
81. 52895996 c.277G>A p.G93R missense 0.00000824●●●●●●
82. 52895018 c.499G>A p.G167S missense 0.00000824●●●●●●
83. 52890196 c.884T>C p.L295P missense 0.00000824●●●●●●
84. 52890175 c.905G>T p.S302I missense 0.00000824●●●●●●
85. 52894156 c.731G>A p.G244D missense 0.00000824●●●●●●
86. 52895912 c.361C>A p.P121T missense 0.00000824●●●●●●
87. 52896008 c.265G>A p.V89M missense 0.00000824●●●●●●
88. 52899753 c.87_89delAAG p.Arg30del inframe 0.00000824●●●●●●
89. 52899683 c.157C>T p.H53Y missense 0.00000824●●●●●●
90. 52899641 c.199T>C p.C67R missense 0.00000824●●●●●●
91. 52890226 c.854A>G p.Y285C missense 0.00000824●●●●●●
92. 52894934 c.583G>A p.V195M missense 0.00000824●●●●●●
93. 52899703 c.137C>T p.P46L missense 0.00000824●●●●●●
94. 52895948 c.325C>G p.R109G missense 0.00000824●●●●●●
95. 52894195 c.692G>A p.G231D missense 0.00000824●●●●●●
96. 52895030 c.487A>G p.T163A missense 0.00000824●●●●●●
97. 52890154 c.926T>C p.I309T missense 0.00000824●●●●●●
98. 52895948 c.325C>T p.R109X nonsense 0.00000824●●●●●●
99. 52894922 c.595_598delAATG frameshift 0.00000824●●●●●●
100. 52894168 c.719A>T p.E240V missense 0.00000824●●●●●●
101. 52895900 c.373A>T p.S125C missense 0.00000824●●●●●●
102. 52895023 c.494A>C p.D165A missense 0.00000824●●●●●●
103. 52895014 c.503T>C p.M168T missense 0.00000824●●●●●●
104. 52896001 c.272G>A p.R91H missense 0.00000824●●●●●●
105. 52894151 c.736A>G p.N246D missense 0.00000824●●●●●●
106. 52895925 c.348G>C p.M116I missense 0.00000824●●●●●●
107. 52896001 c.272G>C p.R91P missense 0.00000824●●●●●●
108. 52899695 c.145G>A p.E49K missense 0.00000824●●●●●●
109. 52895896 c.377C>T p.T126I missense 0.00000824●●●●●●
110. 52895966 c.307C>G p.H103D missense 0.00000824●●●●●●
111. 52890229 c.851G>T p.R284L missense 0.00000824●●●●●●
112. 52894939 c.578G>C p.S193T missense 0.00000824●●●●●●
113. 52890164 c.916G>A p.G306S missense 0.00000824●●●●●●
114. 52899746 c.94G>A p.V32I missense 0.00000824●●●●●●
115. 52895903 c.370A>G p.K124E missense 0.00000824●●●●●●
116. 52896020 c.253G>C p.V85L missense 0.00000824●●●●●●
117. 52894927 c.590G>C p.S197T missense 0.00000824●●●●●●
118. 52890202 c.878G>T p.G293V missense 0.00000824●●●●●●
119. 52890142 c.938C>T p.P313L missense 0.00000824●●●●●●
120. 52894171 c.716T>C p.I239T missense 0.00000824●●●●●●
121. 52894137 c.750G>T p.K250N missense 0.00000824●●●●●●
122. 52894126 c.753+8T>G splice site 0.00000824●●●●●●
123. 52895927 c.346A>G p.M116V missense 0.00000824●●●●●●
124. 52899799 c.41C>A p.S14Y missense 0.00000824●●●●●●
125. 52895866 c.407T>G p.V136G missense 0.00000824●●●●●●
126. 52895897 c.376A>C p.T126P missense 0.00000824●●●●●●
127. 52890167 c.913A>G p.M305V missense 0.00000824●●●●●●
128. 52894213 c.674T>C p.I225T missense 0.00000824●●●●●●
129. 52890176 c.904A>G p.S302G missense 0.00000824●●●●●●
130. 52895918 c.355A>T p.I119F missense 0.00000824●●●●●●
131. 52890245 c.835A>G p.S279G missense 0.00000824●●●●●●
132. 52894230 c.657delA p.Val220LeufsTer30 frameshift 0.00000824●●●●●●
133. 52895912 c.361C>T p.P121S 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.