OBSCN splice variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN 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. 228404997 c.2653+8C>T splice site 0.03199417●●●●●●
2. 228461757 c.5416+8G>A splice site 0.20523323●●●●●●
3. 228506961 c.14502+6delC splice site 0.00309770●●●●●●
4. 228522776 c.16187-5C>A splice site 0.01638752●●●●●●
5. 228511022 c.15374-7A>T splice site 0.00022033●●●●●●
6. 228522509 c.16088-7C>A splice site 0.00009842●●●●●●
7. 228467881 c.7665G>A p.A2555A splice site 0.00051968●●●●●●
8. 228468496 c.8196C>T p.H2732H splice site 0.00019058●●●●●●
9. 228481854 c.11133C>T p.A3711A splice site 0.00036447●●●●●●
10. 228494961 c.12195C>T p.V4065V splice site 0.00000857●●●●●●
11. 228523005 c.16405+6_16405+7insG splice site 0.39772727●●●●●●
12. 228412161 c.2655G>A p.E885E splice site 0.00001681●●●●●●
13. 228431164 c.3205+5G>T splice site 0.00005489●●●●●●
14. 228431990 c.3206-7C>T splice site 0.00001665●●●●●●
15. 228433109 c.3482-5C>G splice site 0.00001702●●●●●●
16. 228444347 c.4310-5C>T splice site 0.00010777●●●●●●
17. 228466382 c.6860-8G>A splice site 0.00006125●●●●●●
18. 228466868 c.7127-8C>T splice site 0.00002584●●●●●●
19. 228476327 c.10077C>T p.P3359P splice site 0.00000829●●●●●●
20. 228494952 c.12194-8C>T splice site 0.00000856●●●●●●
21. 228495240 c.12466+8G>T splice site 0.00003475●●●●●●
22. 228505590 c.13850-3C>T splice site 0.00009624●●●●●●
23. 228505879 c.14131+5G>A splice site 0.00006271●●●●●●
24. 228506962 c.14502+7C>A splice site 0.00020437●●●●●●
25. 228521489 c.16054+8C>T splice site 0.00041982●●●●●●
26. 228523979 c.16537+8C>T splice site 0.00004145●●●●●●
27. 228524701 c.16538-4G>T splice site 0.00023572●●●●●●
28. 228524939 c.16661-6C>T splice site 0.00000878●●●●●●
29. 228525091 c.16800+7G>T splice site 0.00000974●●●●●●
30. 228525641 c.16801-4T>C splice site 0.00001029●●●●●●
31. 228526078 c.17084+5G>A splice site 0.00001673●●●●●●
32. 228433395 c.3757+6delT splice site 0.00000856●●●●●●
33. 228434221 c.3758-8delA splice site 0.00001682●●●●●●
34. 228401417 c.1258+6C>T splice site 0.00126263●●●●●●
35. 228434220 c.3758-9C>T splice site 0.00041218●●●●●●
36. 228434223 c.3758-6C>T splice site 0.00001677●●●●●●
37. 228456224 c.4862-7T>C splice site 0.00001701●●●●●●
38. 228456226 c.4862-5C>T splice site 0.00000850●●●●●●
39. 228463452 c.5954-9C>T splice site 0.00029753●●●●●●
40. 228463736 c.6220+9C>T splice site 0.00005198●●●●●●
41. 228464141 c.6221-10T>G splice site 0.00000897●●●●●●
42. 228464146 c.6221-5C>G splice site 0.00020543●●●●●●
43. 228464627 c.6488-4C>T splice site 0.00003593●●●●●●
44. 228465451 c.6755-4C>T splice site 0.00005880●●●●●●
45. 228469627 c.8198-7C>T splice site 0.00000884●●●●●●
46. 228470995 c.8737+10G>T splice site 0.34532143●●●●●●
47. 228475754 c.9812-8T>C splice site 0.00004167●●●●●●
48. 228476593 c.10339+4A>G splice site 0.00001656●●●●●●
49. 228476595 c.10339+6G>A splice site 0.00006625●●●●●●
50. 228482125 c.11395+9C>T splice site 0.00014073●●●●●●
51. 228494343 c.11926+4G>C splice site 0.00054130●●●●●●
52. 228497176 c.12937-9G>A splice site 0.00113618●●●●●●
53. 228497271 c.13012+11C>A splice site 0.00204333●●●●●●
54. 228506574 c.14132-11G>T splice site 0.00009497●●●●●●
55. 228520894 c.15732-6T>C splice site 0.00001625●●●●●●
56. 228522254 c.16087+9G>A splice site 0.00001822●●●●●●
57. 228523977 c.16537+6G>A splice site 0.00000829●●●●●●
58. 228527811 c.17415+9G>A splice site 0.00038430●●●●●●
59. 228527812 c.17415+10C>A splice site 0.00098559●●●●●●
60. 228528416 c.17533-9C>T splice site 0.00003663●●●●●●
61. 228528785 c.17698-11C>T splice site 0.00002415●●●●●●
62. 228529129 c.17857-9C>A splice site 0.13864465●●●●●●
63. 228537580 c.18149-11G>A splice site 0.00004925●●●●●●
64. 228444620 c.4578C>T splice site 0.00003352●●●●●●
65. 228401134 c.989-8C>A splice site 0.00004822●●●●●●
66. 228401143 c.990G>A splice site 0.00004549●●●●●●
67. 228401416 c.1258+5_1258+6insCGGGGCGGGGCA splice site 0.00269845●●●●●●
68. 228402134 c.1518G>A splice site 0.00000837●●●●●●
69. 228402134 c.1518G>C splice site 0.00000837●●●●●●
70. 228402138 c.1519+3G>A splice site 0.00000837●●●●●●
71. 228403258 c.1829-6C>T splice site 0.00003728●●●●●●
72. 228403260 c.1829-4A>C splice site 0.00010947●●●●●●
73. 228403535 c.2095+5G>T splice site 0.00001167●●●●●●
74. 228403537 c.2095+7G>A splice site 0.00003537●●●●●●
75. 228404123 c.2097G>A splice site 0.00008456●●●●●●
76. 228404715 c.2379C>T splice site 0.00001786●●●●●●
77. 228431158 c.3204A>T splice site 0.00000899●●●●●●
78. 228431163 c.3205+4G>A splice site 0.00000914●●●●●●
79. 228431990 c.3206-7C>A splice site 0.00001665●●●●●●
80. 228432278 c.3481+6delT splice site 0.00000847●●●●●●
81. 228433107 c.3482-7C>T splice site 0.00000854●●●●●●
82. 228434230 c.3759G>A splice site 0.00000835●●●●●●
83. 228437660 c.4034-6C>T splice site 0.00000831●●●●●●
84. 228437944 c.4309+3C>G splice site 0.00000841●●●●●●
85. 228451809 c.4586-8T>C splice site 0.00000831●●●●●●
86. 228451813 c.4586-4C>G splice site 0.00000831●●●●●●
87. 228452091 c.4860A>G splice site 0.00000851●●●●●●
88. 228461873 c.5417-6C>T splice site 0.00000858●●●●●●
89. 228462152 c.5683+7A>G splice site 0.00000896●●●●●●
90. 228463734 c.6220+7C>A splice site 0.00010169●●●●●●
91. 228463735 c.6220+8G>C splice site 0.00005150●●●●●●
92. 228464144 c.6221-7A>G splice site 0.00000894●●●●●●
93. 228464145 c.6221-6C>T splice site 0.00000894●●●●●●
94. 228464146 c.6221-5C>T splice site 0.00000893●●●●●●
95. 228464147 c.6221-4G>A splice site 0.00001782●●●●●●
96. 228464416 c.6486C>T splice site 0.00011058●●●●●●
97. 228464855 c.6601-6G>A splice site 0.00002441●●●●●●
98. 228465567 c.6859+8G>C splice site 0.00000854●●●●●●
99. 228465567 c.6859+8G>A splice site 0.00000854●●●●●●
100. 228466391 c.6861G>A splice site 0.00006910●●●●●●
101. 228466661 c.7126+5A>T splice site 0.00000834●●●●●●
102. 228466661 c.7126+5A>G splice site 0.00000834●●●●●●
103. 228466662 c.7126+6G>T splice site 0.00001670●●●●●●
104. 228466872 c.7127-4A>C splice site 0.00000858●●●●●●
105. 228466873 c.7127-3C>G splice site 0.00000857●●●●●●
106. 228467514 c.7397-8delC splice site 0.00001832●●●●●●
107. 228467793 c.7663+5G>T splice site 0.00000871●●●●●●
108. 228468154 c.7930+8A>G splice site 0.00001624●●●●●●
109. 228468227 c.7931-4G>T splice site 0.00013981●●●●●●
110. 228468502 c.8197+5G>A splice site 0.00001018●●●●●●
111. 228469629 c.8198-5C>T splice site 0.00000880●●●●●●
112. 228469630 c.8198-4G>A splice site 0.00002630●●●●●●
113. 228469914 c.8470+8G>A splice site 0.00000875●●●●●●
114. 228470716 c.8471-3C>T splice site 0.00011489●●●●●●
115. 228471196 c.8738-8T>A splice site 0.00000839●●●●●●
116. 228471198 c.8738-6C>T splice site 0.00000838●●●●●●
117. 228471473 c.9004+3G>A splice site 0.00000847●●●●●●
118. 228471475 c.9004+5G>A splice site 0.00000847●●●●●●
119. 228471476 c.9004+6G>A splice site 0.00000848●●●●●●
120. 228471477 c.9004+7C>T splice site 0.00006785●●●●●●
121. 228471478 c.9004+8G>A splice site 0.00000849●●●●●●
122. 228473781 c.9007C>A splice site 0.00004823●●●●●●
123. 228474467 c.9278-7C>G splice site 0.00001671●●●●●●
124. 228474469 c.9278-5C>G splice site 0.00000835●●●●●●
125. 228474469 c.9278-5C>T splice site 0.00000835●●●●●●
126. 228475389 c.9545-6C>T splice site 0.00000841●●●●●●
127. 228475396 c.9546G>A splice site 0.00001677●●●●●●
128. 228475666 c.9811+5G>A splice site 0.00000834●●●●●●
129. 228476592 c.10339+3A>G splice site 0.00000828●●●●●●
130. 228479601 c.10342C>T splice site 0.00001743●●●●●●
131. 228479869 c.10603+7A>G splice site 0.00000828●●●●●●
132. 228479870 c.10603+8T>C splice site 0.00000828●●●●●●
133. 228481046 c.10868-8_10868-7insC splice site 0.00004274●●●●●●
134. 228481055 c.10869T>C splice site 0.00000843●●●●●●
135. 228482115 c.11394G>A splice site 0.00000828●●●●●●
136. 228482119 c.11395+3A>G splice site 0.00000828●●●●●●
137. 228482122 c.11395+6G>T splice site 0.00000828●●●●●●
138. 228482475 c.11396-6T>C splice site 0.00000835●●●●●●
139. 228482477 c.11396-4C>T splice site 0.00000834●●●●●●
140. 228482747 c.11659+3A>G splice site 0.00009107●●●●●●
141. 228482752 c.11659+8C>G splice site 0.00001656●●●●●●
142. 228494065 c.11660-8C>T splice site 0.00001568●●●●●●
143. 228494067 c.11660-6C>G splice site 0.00001550●●●●●●
144. 228494343 c.11926+4G>A splice site 0.00001867●●●●●●
145. 228494955 c.12194-5C>T splice site 0.00002569●●●●●●
146. 228494956 c.12194-4G>A splice site 0.00002569●●●●●●
147. 228495804 c.12467-8delC splice site 0.00000830●●●●●●
148. 228496089 c.12739+5C>A splice site 0.00005753●●●●●●
149. 228497004 c.12936+8C>T splice site 0.00003072●●●●●●
150. 228497265 c.13012+5G>A splice site 0.00000830●●●●●●
151. 228497266 c.13012+6C>A splice site 0.00001661●●●●●●
152. 228503828 c.13285+8C>T splice site 0.00003675●●●●●●
153. 228504404 c.13286-6C>A splice site 0.00001082●●●●●●
154. 228504407 c.13286-3C>T splice site 0.00001074●●●●●●
155. 228505589 c.13850-4C>G splice site 0.00000875●●●●●●
156. 228505878 c.14131+4C>T splice site 0.00008921●●●●●●
157. 228506961 c.14502+6_14502+7insC splice site 0.00106642●●●●●●
158. 228506960 c.14502+5G>T splice site 0.00005078●●●●●●
159. 228506962 c.14502+7C>T splice site 0.00005109●●●●●●
160. 228509040 c.14503-5C>T splice site 0.00000880●●●●●●
161. 228511313 c.15652+6T>C splice site 0.00000937●●●●●●
162. 228520555 c.15653-6delC splice site 0.00000840●●●●●●
163. 228520643 c.15731+4delG splice site 0.00005963●●●●●●
164. 228520642 c.15731+3A>G splice site 0.00000852●●●●●●
165. 228521488 c.16054+7G>A splice site 0.00006961●●●●●●
166. 228522244 c.16086A>G splice site 0.00003684●●●●●●
167. 228522621 c.16186+7C>T splice site 0.00004670●●●●●●
168. 228522622 c.16186+8G>A splice site 0.00009328●●●●●●
169. 228522999 c.16405C>T splice site 0.00011569●●●●●●
170. 228523484 c.16406-8C>T splice site 0.00000829●●●●●●
171. 228523975 c.16537+4C>T splice site 0.00002487●●●●●●
172. 228524700 c.16538-5C>T splice site 0.00009447●●●●●●
173. 228524701 c.16538-4G>A splice site 0.00003626●●●●●●
174. 228524702 c.16538-3C>G splice site 0.00001729●●●●●●
175. 228524941 c.16661-4C>T splice site 0.00000879●●●●●●
176. 228525088 c.16800+4G>A splice site 0.00000971●●●●●●
177. 228525090 c.16800+6C>T splice site 0.00000975●●●●●●
178. 228525849 c.17001+4T>C splice site 0.00000922●●●●●●
179. 228527643 c.17259-3C>T splice site 0.00001661●●●●●●
180. 228528200 c.17416-7C>T splice site 0.00004611●●●●●●
181. 228528417 c.17533-8G>A splice site 0.00001832●●●●●●
182. 228528427 c.17535G>A splice site 0.00004614●●●●●●
183. 228528594 c.17697+5G>T splice site 0.00007012●●●●●●
184. 228528789 c.17698-7C>T splice site 0.00001161●●●●●●
185. 228529132 c.17857-6C>G splice site 0.00000925●●●●●●
186. 228529134 c.17857-4A>G splice site 0.00000920●●●●●●
187. 228529320 c.18034+5G>A splice site 0.00000886●●●●●●
188. 228529322 c.18034+7G>A splice site 0.00000889●●●●●●
189. 228538650 c.18419+6G>A splice site 0.00000932●●●●●●
190. 228539018 c.18420-4C>A splice site 0.00008598●●●●●●
191. 228539158 c.18549+7A>G splice site 0.00004213●●●●●●
192. 228543853 c.18663C>T splice site 0.00000828●●●●●●
193. 228543898 c.18704+4A>C splice site 0.00000828●●●●●●

* 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.