TSC2 splice variants in ExAC

TSC2 gene summary
TSC2 variants in

The table below lists the TSC2 splice 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. 2138218 c.5161-10A>C splice site 0.20671736●●●●●●
2. 2105400 c.482-3C>T splice site 0.08710623●●●●●●
3. 2103345 c.228C>T p.H76H splice site 0.00686823●●●●●●
4. 2134221 c.4006-8C>T splice site 0.00494132●●●●●●
5. 2132513 c.3883+8C>G splice site 0.00381405●●●●●●
6. 2138219 c.5161-9C>T splice site 0.00347095●●●●●●
7. 2137857 c.4990-7C>T splice site 0.00303831●●●●●●
8. 2107186 c.848+7G>A splice site 0.00146042●●●●●●
9. 2131586 c.3611-10G>A splice site 0.00139176●●●●●●
10. 2127595 c.2838-4A>G splice site 0.00083858●●●●●●
11. 2130384 c.3610+6G>A splice site 0.00069751●●●●●●
12. 2130387 c.3610+9C>T splice site 0.00068975●●●●●●
13. 2120585 c.1839+6G>A splice site 0.00041986●●●●●●
14. 2126489 c.2743-3C>A splice site 0.00024930●●●●●●
15. 2108740 c.849-8A>G splice site 0.00022007●●●●●●
16. 2134723 c.4493+7C>A splice site 0.00017186●●●●●●
17. 2121782 c.1947-3C>T splice site 0.00015765●●●●●●
18. 2126485 c.2743-7C>G splice site 0.00014963●●●●●●
19. 2129027 c.2967-6C>T splice site 0.00013351●●●●●●
20. 2132511 c.3883+6G>A splice site 0.00010035●●●●●●
21. 2131592 c.3611-4G>A splice site 0.00009318●●●●●●
22. 2129677 c.3397+7C>T splice site 0.00007816●●●●●●
23. 2108882 c.975+8G>A splice site 0.00007730●●●●●●
24. 2121624 c.1946+7G>A splice site 0.00007690●●●●●●
25. 2134225 c.4006-4C>G splice site 0.00007315●●●●●●
26. 2136187 c.4663-7C>T splice site 0.00006757●●●●●●
27. 2132513 c.3883+8_3883+9delCT splice site 0.00006690●●●●●●
28. 2134231 c.4008G>A splice site 0.00006404●●●●●●
29. 2121623 c.1946+6C>T splice site 0.00005979●●●●●●
30. 2125795 c.2546-5C>T splice site 0.00005897●●●●●●
31. 2135225 c.4570-6_4570-5insCACAGT splice site 0.00005866●●●●●●
32. 2100395 c.139-6C>T splice site 0.00005820●●●●●●
33. 2136384 c.4849+4C>T splice site 0.00005760●●●●●●
34. 2112968 c.1362-5C>T splice site 0.00005176●●●●●●
35. 2130382 c.3610+4C>T splice site 0.00005166●●●●●●
36. 2110822 c.1119+8_1119+9insG splice site 0.00005030●●●●●●
37. 2121781 c.1947-4G>A splice site 0.00004285●●●●●●
38. 2121505 c.1840-6T>G splice site 0.00004255●●●●●●
39. 2131591 c.3611-5C>T splice site 0.00004238●●●●●●
40. 2112495 c.1258-3C>T splice site 0.00004227●●●●●●
41. 2126175 c.2742+4G>A splice site 0.00004219●●●●●●
42. 2112605 c.1361+4delG splice site 0.00004190●●●●●●
43. 2108881 c.975+7C>T splice site 0.00003869●●●●●●
44. 2125796 c.2546-4G>A splice site 0.00003369●●●●●●
45. 2110820 c.1119+6G>C splice site 0.00003352●●●●●●
46. 2138220 c.5161-8G>A splice site 0.00003322●●●●●●
47. 2121941 c.2097+6T>G splice site 0.00003282●●●●●●
48. 2133697 c.3885C>T splice site 0.00003141●●●●●●
49. 2133821 c.4005+4A>C splice site 0.00003119●●●●●●
50. 2121781 c.1947-4G>C splice site 0.00002857●●●●●●
51. 2137861 c.4990-3C>T splice site 0.00002609●●●●●●
52. 2136734 c.4851C>T splice site 0.00002549●●●●●●
53. 2137950 c.5068+8C>T splice site 0.00002526●●●●●●
54. 2112017 c.1257+8C>A splice site 0.00002516●●●●●●
55. 2135032 c.4569+5G>A splice site 0.00002498●●●●●●
56. 2114436 c.1599+8C>A splice site 0.00002490●●●●●●
57. 2106647 c.651C>G splice site 0.00002486●●●●●●
58. 2122237 c.2098-5C>G splice site 0.00002484●●●●●●
59. 2105399 c.482-4C>T splice site 0.00002471●●●●●●
60. 2129669 c.3396G>A splice site 0.00002123●●●●●●
61. 2129669 c.3396G>T p.S1132S splice site 0.00002123●●●●●●
62. 2136379 c.4848A>G splice site 0.00001855●●●●●●
63. 2137859 c.4990-5G>C splice site 0.00001747●●●●●●
64. 2131805 c.3814+6T>C splice site 0.00001719●●●●●●
65. 2121622 c.1946+5G>A splice site 0.00001708●●●●●●
66. 2121503 c.1840-8C>T splice site 0.00001707●●●●●●
67. 2136725 c.4850-8A>G splice site 0.00001700●●●●●●
68. 2131591 c.3611-5C>A splice site 0.00001695●●●●●●
69. 2125794 c.2546-6C>T splice site 0.00001685●●●●●●
70. 2129435 c.3284+6T>G splice site 0.00001685●●●●●●
71. 2125795 c.2546-5C>G splice site 0.00001685●●●●●●
72. 2124203 c.2358C>T p.R786R splice site 0.00001678●●●●●●
73. 2100492 c.225+5G>T splice site 0.00001678●●●●●●
74. 2130157 c.3398-9C>T splice site 0.00001676●●●●●●
75. 2127732 c.2966+5C>T splice site 0.00001673●●●●●●
76. 2138324 c.5257C>A splice site 0.00001672●●●●●●
77. 2138038 c.5069-11A>G splice site 0.00001671●●●●●●
78. 2126590 c.2837+4C>T splice site 0.00001670●●●●●●
79. 0 c.-29-3C>T splice site 0.00001669●●●●●●
80. 2129033 c.2967C>T splice site 0.00001668●●●●●●
81. 2122989 c.2355+5G>A splice site 0.00001665●●●●●●
82. 2132434 c.3815-3C>T splice site 0.00001665●●●●●●
83. 2122842 c.2221-8G>C splice site 0.00001662●●●●●●
84. 2106637 c.649-8T>C splice site 0.00001662●●●●●●
85. 2122370 c.2220+6A>G splice site 0.00001655●●●●●●
86. 2121781 c.1947-4G>T splice site 0.00001428●●●●●●
87. 2129550 c.3285-8C>T splice site 0.00001111●●●●●●
88. 2129554 c.3285-4T>G splice site 0.00001103●●●●●●
89. 2129558 c.3285C>T splice site 0.00001093●●●●●●
90. 2133822 c.4005+5_4005+6delGT splice site 0.00001040●●●●●●
91. 2137857 c.4990-7C>G splice site 0.00000881●●●●●●
92. 2137858 c.4990-6G>A splice site 0.00000876●●●●●●
93. 2137859 c.4990-5G>A splice site 0.00000874●●●●●●
94. 2134721 c.4493+5G>T splice site 0.00000859●●●●●●
95. 2130381 c.3610+3A>G splice site 0.00000857●●●●●●
96. 2121621 c.1946+4C>T splice site 0.00000854●●●●●●
97. 2131593 c.3611-3C>T splice site 0.00000847●●●●●●
98. 2126177 c.2742+6C>T splice site 0.00000847●●●●●●
99. 2136186 c.4663-8C>T splice site 0.00000845●●●●●●
100. 2136186 c.4663-8C>A splice site 0.00000845●●●●●●
101. 2126174 c.2742+3G>A splice site 0.00000844●●●●●●
102. 2125794 c.2546-6C>G splice site 0.00000843●●●●●●
103. 2137953 c.5068+11G>C splice site 0.00000842●●●●●●
104. 2137949 c.5068+7C>T splice site 0.00000842●●●●●●
105. 2125796 c.2546-4G>T splice site 0.00000842●●●●●●
106. 2110820 c.1119+6G>A splice site 0.00000838●●●●●●
107. 2135227 c.4570-4A>G splice site 0.00000838●●●●●●
108. 2110822 c.1119+8delG splice site 0.00000838●●●●●●
109. 2100491 c.225+4G>A splice site 0.00000838●●●●●●
110. 2110821 c.1119+7T>G splice site 0.00000838●●●●●●
111. 2138331 c.5259+5G>T splice site 0.00000837●●●●●●
112. 2127735 c.2966+8G>C splice site 0.00000836●●●●●●
113. 2110817 c.1119+3G>T splice site 0.00000836●●●●●●
114. 2132510 c.3883+5C>T splice site 0.00000836●●●●●●
115. 0 c.-29-4A>G splice site 0.00000835●●●●●●
116. 2127725 c.2964C>T splice site 0.00000835●●●●●●
117. 2138044 c.5069-5C>T splice site 0.00000835●●●●●●
118. 0 c.-29-6G>A splice site 0.00000835●●●●●●
119. 2138449 c.5262C>A splice site 0.00000834●●●●●●
120. 2125901 c.2639+8G>T splice site 0.00000834●●●●●●
121. 2129205 c.3131+8C>T splice site 0.00000833●●●●●●
122. 2126584 c.2835G>A splice site 0.00000833●●●●●●
123. 2138146 c.5160+6_5160+7insG splice site 0.00000833●●●●●●
124. 2135033 c.4569+6C>T splice site 0.00000833●●●●●●
125. 2138147 c.5160+7G>C splice site 0.00000833●●●●●●
126. 2132438 c.3816G>A p.V1272V splice site 0.00000833●●●●●●
127. 2098589 c.-28delG splice site 0.00000833●●●●●●
128. 2135034 c.4569+7G>A splice site 0.00000833●●●●●●
129. 2122992 c.2355+8G>A splice site 0.00000833●●●●●●
130. 2106251 c.648+6T>C splice site 0.00000832●●●●●●
131. 2126061 c.2640-8C>T splice site 0.00000831●●●●●●
132. 2120452 c.1717-5_1717-4insG splice site 0.00000831●●●●●●
133. 2127592 c.2838-7C>G splice site 0.00000831●●●●●●
134. 2126064 c.2640-5C>G splice site 0.00000831●●●●●●
135. 2120449 c.1717-8C>T splice site 0.00000831●●●●●●
136. 2127593 c.2838-6C>T splice site 0.00000831●●●●●●
137. 2120449 c.1717-8C>G splice site 0.00000831●●●●●●
138. 2106189 c.600-8C>A splice site 0.00000830●●●●●●
139. 2138224 c.5161-4C>G splice site 0.00000830●●●●●●
140. 2106192 c.600-5T>C splice site 0.00000830●●●●●●
141. 2138220 c.5161-8G>C splice site 0.00000830●●●●●●
142. 2138223 c.5161-5C>T splice site 0.00000830●●●●●●
143. 2098757 c.138+3G>C splice site 0.00000828●●●●●●
144. 2122237 c.2098-5C>T splice site 0.00000828●●●●●●
145. 2098758 c.138+4A>G splice site 0.00000828●●●●●●
146. 2122368 c.2220+4C>G splice site 0.00000828●●●●●●
147. 2110668 c.976-3C>T splice site 0.00000826●●●●●●
148. 2104449 c.481+8C>T splice site 0.00000825●●●●●●
149. 2104448 c.481+7G>T splice site 0.00000825●●●●●●
150. 2114265 c.1444-8C>T splice site 0.00000825●●●●●●
151. 2104299 c.339C>T p.G113G splice site 0.00000824●●●●●●
152. 2104291 c.337-6C>G splice site 0.00000824●●●●●●
153. 2105396 c.482-7delC splice site 0.00000824●●●●●●
154. 2104294 c.337-3T>A splice site 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.