SGCB missense variants in ExAC

SGCB gene summary
SGCB variants in

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