OBSCN truncating variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN truncating 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. 228469903 c.8467A>T p.R2823X nonsense 0.03568709●●●●●●
2. 228462539 c.5950C>T p.R1984X nonsense 0.00002469●●●●●●
3. 228465550 c.6850C>T p.R2284X nonsense 0.00007585●●●●●●
4. 228437911 c.4279C>T p.Q1427X nonsense 0.00000831●●●●●●
5. 228451972 c.4741C>T p.R1581X nonsense 0.00001659●●●●●●
6. 228467938 c.7722G>A p.W2574X nonsense 0.00000842●●●●●●
7. 228525016 c.16732C>T p.R5578X nonsense 0.00000961●●●●●●
8. 228525076 c.16792C>T p.R5598X nonsense 0.00001923●●●●●●
9. 228430931 c.2977C>T p.Gln993Ter nonsense 0.00000874●●●●●●
10. 228433293 c.3661C>T p.Arg1221Ter nonsense 0.00000828●●●●●●
11. 228496931 c.12871C>T p.Gln4291Ter nonsense 0.00002398●●●●●●
12. 228525799 c.16955C>A p.Ser5652Ter nonsense 0.00000896●●●●●●
13. 228547341 c.18748C>T p.Arg6250Ter nonsense 0.00076911●●●●●●
14. 228400310 c.826C>T p.Q276X nonsense 0.00001720●●●●●●
15. 228401366 c.1213G>T p.E405X nonsense 0.00011044●●●●●●
16. 228402069 c.1453G>T p.E485X nonsense 0.00000835●●●●●●
17. 228402120 c.1504C>T p.Q502X nonsense 0.00000837●●●●●●
18. 228402615 c.1644C>G p.Y548X nonsense 0.00000851●●●●●●
19. 228402733 c.1762C>T p.R588X nonsense 0.00004259●●●●●●
20. 228404872 c.2536C>T p.Q846X nonsense 0.00000833●●●●●●
21. 228412207 c.2701C>T p.Q901X nonsense 0.00000837●●●●●●
22. 228412357 c.2851C>T p.Q951X nonsense 0.00000831●●●●●●
23. 228412405 c.2899C>T p.Q967X nonsense 0.00000846●●●●●●
24. 228433359 c.3727C>T p.Q1243X nonsense 0.00000833●●●●●●
25. 228434455 c.3984C>A p.Y1328X nonsense 0.00000829●●●●●●
26. 228437781 c.4149G>A p.W1383X nonsense 0.00000829●●●●●●
27. 228437815 c.4183A>T p.K1395X nonsense 0.00000828●●●●●●
28. 228444549 c.4507C>T p.Q1503X nonsense 0.00000831●●●●●●
29. 228444573 c.4531G>T p.E1511X nonsense 0.00000831●●●●●●
30. 228456428 c.5059C>T p.Q1687X nonsense 0.00001672●●●●●●
31. 228462278 c.5689C>T p.R1897X nonsense 0.00004942●●●●●●
32. 228464337 c.6407C>A p.S2136X nonsense 0.00001220●●●●●●
33. 228464705 c.6562G>T p.E2188X nonsense 0.00002414●●●●●●
34. 228464987 c.6727C>T p.Q2243X nonsense 0.00000896●●●●●●
35. 228465538 c.6838C>T p.R2280X nonsense 0.00013415●●●●●●
36. 228467575 c.7450C>T p.Q2484X nonsense 0.00002108●●●●●●
37. 228467909 c.7693C>T p.Q2565X nonsense 0.00000838●●●●●●
38. 228468299 c.7999C>T p.Q2667X nonsense 0.00000831●●●●●●
39. 228469804 c.8368C>T p.R2790X nonsense 0.00000848●●●●●●
40. 228471427 c.8961C>A p.C2987X nonsense 0.00000837●●●●●●
41. 228474577 c.9381C>A p.C3127X nonsense 0.00000843●●●●●●
42. 228475540 c.9690C>G p.Y3230X nonsense 0.00000829●●●●●●
43. 228475785 c.9835A>T p.K3279X nonsense 0.00000830●●●●●●
44. 228480262 c.10642G>T p.E3548X nonsense 0.00000829●●●●●●
45. 228480292 c.10672C>T p.Q3558X nonsense 0.00000828●●●●●●
46. 228480366 c.10746C>G p.Y3582X nonsense 0.00000828●●●●●●
47. 228480450 c.10830C>A p.C3610X nonsense 0.00000828●●●●●●
48. 228480457 c.10837G>T p.E3613X nonsense 0.00003312●●●●●●
49. 228482597 c.11512G>T p.E3838X nonsense 0.00000828●●●●●●
50. 228482623 c.11538C>G p.Y3846X nonsense 0.00000828●●●●●●
51. 228482657 c.11572C>T p.Q3858X nonsense 0.00000828●●●●●●
52. 228494622 c.11947C>T p.R3983X nonsense 0.00004331●●●●●●
53. 228495921 c.12576G>A p.W4192X nonsense 0.00000839●●●●●●
54. 228495928 c.12583C>T p.Q4195X nonsense 0.00000849●●●●●●
55. 228503628 c.13093C>T p.Q4365X nonsense 0.00001223●●●●●●
56. 228504414 c.13290G>A p.W4430X nonsense 0.00001047●●●●●●
57. 228504648 c.13524C>A p.C4508X nonsense 0.00007065●●●●●●
58. 228505437 c.13834C>T p.Q4612X nonsense 0.00000858●●●●●●
59. 228505711 c.13968G>A p.W4656X nonsense 0.00000828●●●●●●
60. 228506811 c.14358C>G p.Y4786X nonsense 0.00000944●●●●●●
61. 228509213 c.14671G>T p.E4891X nonsense 0.00000903●●●●●●
62. 228509324 c.14782C>T p.R4928X nonsense 0.00000841●●●●●●
63. 228521288 c.15861C>A p.Y5287X nonsense 0.00002103●●●●●●
64. 228521420 c.15993T>G p.Y5331X nonsense 0.00003165●●●●●●
65. 228525020 c.16736C>G p.S5579X nonsense 0.00000959●●●●●●
66. 228525043 c.16759G>T p.E5587X nonsense 0.00000950●●●●●●
67. 228527662 c.17275C>T p.Q5759X nonsense 0.00000830●●●●●●
68. 228528212 c.17421C>G p.Y5807X nonsense 0.00004386●●●●●●
69. 228528904 c.17806C>T p.R5936X nonsense 0.00000848●●●●●●
70. 228548163 c.19570C>T p.R6524X nonsense 0.00001879●●●●●●
71. 228548220 c.19627C>T p.Q6543X nonsense 0.00000988●●●●●●
72. 228548439 c.19846G>T p.E6616X nonsense 0.00002969●●●●●●
73. 228548448 c.19855C>T p.Q6619X nonsense 0.00001018●●●●●●
74. 228462543 c.5953+1G>T essential splice site 0.00016364●●●●●●
75. 228523899 c.16467-2_16467-1insG essential splice site 0.00000829●●●●●●
76. 228404990 c.2653+1G>C essential splice site 0.00056373●●●●●●
77. 228464418 c.6487+1G>T essential splice site 0.00011451●●●●●●
78. 228469908 c.8470+2T>C essential splice site 0.00000868●●●●●●
79. 228471202 c.8738-2A>G essential splice site 0.00000837●●●●●●
80. 228476026 c.10075+1G>A essential splice site 0.00003402●●●●●●
81. 228476590 c.10339+1G>A essential splice site 0.00000828●●●●●●
82. 228481053 c.10868-1G>A essential splice site 0.00000844●●●●●●
83. 228400473 c.988+1G>T essential splice site 0.00001339●●●●●●
84. 228403262 c.1829-2A>C essential splice site 0.00003583●●●●●●
85. 228412159 c.2654-1G>T essential splice site 0.00000841●●●●●●
86. 228432273 c.3481+1G>A essential splice site 0.00000844●●●●●●
87. 228433113 c.3482-1G>T essential splice site 0.00000846●●●●●●
88. 228461750 c.5416+1G>A essential splice site 0.00000913●●●●●●
89. 228461877 c.5417-2A>G essential splice site 0.00000856●●●●●●
90. 228465454 c.6755-1G>A essential splice site 0.00000839●●●●●●
91. 228465560 c.6859+1G>A essential splice site 0.00000847●●●●●●
92. 228466657 c.7126+1G>A essential splice site 0.00000834●●●●●●
93. 228467146 c.7396+1G>T essential splice site 0.00002717●●●●●●
94. 228467790 c.7663+2T>A essential splice site 0.00000882●●●●●●
95. 228468498 c.8197+1G>A essential splice site 0.00001008●●●●●●
96. 228471202 c.8738-2A>C essential splice site 0.00000837●●●●●●
97. 228475394 c.9545-1G>A essential splice site 0.00000839●●●●●●
98. 228475760 c.9812-2A>G essential splice site 0.00000833●●●●●●
99. 228476324 c.10076-2A>G essential splice site 0.00000829●●●●●●
100. 228480488 c.10867+1G>T essential splice site 0.00000828●●●●●●
101. 228505163 c.13562-2A>C essential splice site 0.00001800●●●●●●
102. 228505164 c.13562-1G>T essential splice site 0.00000897●●●●●●
103. 228511027 c.15374-2A>G essential splice site 0.00005503●●●●●●
104. 228511028 c.15374-1G>A essential splice site 0.00003638●●●●●●
105. 228522779 c.16187-2A>G essential splice site 0.00006007●●●●●●
106. 228523553 c.16466+1G>T essential splice site 0.00000829●●●●●●
107. 228524828 c.16660+1G>T essential splice site 0.00000832●●●●●●
108. 228524943 c.16661-2A>G essential splice site 0.00000879●●●●●●
109. 228525989 c.17002-2A>G essential splice site 0.00001452●●●●●●
110. 228528324 c.17532+1G>A essential splice site 0.00002233●●●●●●
111. 228528324 c.17532+1G>T essential splice site 0.00002233●●●●●●
112. 228528591 c.17697+2T>C essential splice site 0.00002160●●●●●●
113. 228529316 c.18034+1G>A essential splice site 0.00000882●●●●●●
114. 228538646 c.18419+2T>C essential splice site 0.00000912●●●●●●
115. 228539153 c.18549+2T>A essential splice site 0.00004036●●●●●●
116. 228466583 c.7053delC p.H2352Tfs*28 frameshift 0.00003325●●●●●●
117. 228467745 c.7620delC p.Q2541Rfs*18 frameshift 0.00002315●●●●●●
118. 228468374 c.8074delT p.Y2692Mfs*17 frameshift 0.00000835●●●●●●
119. 228529181 c.17900delG p.R5967Pfs*30 frameshift 0.00000861●●●●●●
120. 228543874 c.18684delC p.K6230Rfs*132 frameshift 0.00001656●●●●●●
121. 228399495 c.11_12delCA p.Gln5ValfsTer31 frameshift 0.00001217●●●●●●
122. 228400237 c.753_754insG p.Lys253GlnfsTer103 frameshift 0.00000903●●●●●●
123. 228401963 c.1347delC p.Val451SerfsTer27 frameshift 0.00000853●●●●●●
124. 228402702 c.1731delT p.Asp578MetfsTer38 frameshift 0.00000849●●●●●●
125. 228404775 c.2439delC p.Pro814ArgfsTer97 frameshift 0.00000841●●●●●●
126. 228404790 c.2454_2455delGT p.Cys819Ter frameshift 0.00000836●●●●●●
127. 228404973 c.2637delC p.Arg880GlyfsTer31 frameshift 0.00000859●●●●●●
128. 228430908 c.2954_2955insGCAG p.Asp985GlufsTer8 frameshift 0.00000908●●●●●●
129. 228430915 c.2961delG p.Ala988HisfsTer15 frameshift 0.00000892●●●●●●
130. 228434381 c.3910_3911delGT p.Val1304AlafsTer27 frameshift 0.00000828●●●●●●
131. 228437814 c.4182delG p.Val1396PhefsTer78 frameshift 0.00000828●●●●●●
132. 228437941 c.4309delG p.Glu1437SerfsTer37 frameshift 0.00000839●●●●●●
133. 228444372 c.4330delA p.Lys1444ArgfsTer30 frameshift 0.00000829●●●●●●
134. 228444456 c.4414_4418delGAGGT p.Glu1472AspfsTer74 frameshift 0.00001658●●●●●●
135. 228444570 c.4528delG p.Glu1511SerfsTer44 frameshift 0.00000831●●●●●●
136. 228456334 c.4965_4966delAG p.Glu1656GlyfsTer78 frameshift 0.00000835●●●●●●
137. 228462008 c.5546delG p.Val1850TrpfsTer50 frameshift 0.00002516●●●●●●
138. 228464158 c.6228_6232delGGTAC p.Val2077AlafsTer34 frameshift 0.00000884●●●●●●
139. 228464179 c.6249_6252delGCAG p.Ala2085TrpfsTer81 frameshift 0.00000890●●●●●●
140. 228464937 c.6677delG p.Cys2227AlafsTer22 frameshift 0.00001072●●●●●●
141. 228464992 c.6732_6733delCT p.Ser2245CysfsTer95 frameshift 0.00000895●●●●●●
142. 228467013 c.7264delG p.Asn2424ThrfsTer13 frameshift 0.00000835●●●●●●
143. 228467563 c.7438delG p.Arg2481ValfsTer36 frameshift 0.00001911●●●●●●
144. 228467647 c.7522_7523delCT p.Leu2508ValfsTer4 frameshift 0.00002370●●●●●●
145. 228467655 c.7530_7533delCTCT p.Ser2511ArgfsTer5 frameshift 0.00002330●●●●●●
146. 228467717 c.7592_7595delTGCC p.Pro2532LeufsTer26 frameshift 0.00001512●●●●●●
147. 228468361 c.8061delC p.Ser2689ValfsTer20 frameshift 0.00000833●●●●●●
148. 228468388 c.8088_8089insA p.Thr2697AsnfsTer11 frameshift 0.00003365●●●●●●
149. 228475805 c.9855_9856insA p.Thr3286AsnfsTer11 frameshift 0.00000829●●●●●●
150. 228475978 c.10028_10029insGT p.Gly3347ValfsTer20 frameshift 0.00000832●●●●●●
151. 228476504 c.10254delG p.Ile3419SerfsTer27 frameshift 0.00005797●●●●●●
152. 228476545 c.10295_10299delGTGTG p.Cys3432LeufsTer26 frameshift 0.00001656●●●●●●
153. 228476558 c.10308_10309delGG p.Arg3438AspfsTer21 frameshift 0.00000828●●●●●●
154. 228479784 c.10525delG p.Gly3509AlafsTer33 frameshift 0.00000828●●●●●●
155. 228479858 c.10599_10601delCAGinsCG p.Arg3534GlyfsTer8 frameshift 0.00001656●●●●●●
156. 228479859 c.10600_10601delAG p.Arg3534GlyfsTer26 frameshift 0.00000828●●●●●●
157. 228480484 c.10864_10865delAG p.Arg3622GlyfsTer26 frameshift 0.00001656●●●●●●
158. 228481314 c.11128_11129delAG p.Arg3710GlyfsTer13 frameshift 0.00000850●●●●●●
159. 228481314 c.11128delA p.Arg3710GlyfsTer8 frameshift 0.00000850●●●●●●
160. 228482113 c.11392delA p.Arg3798GlyfsTer8 frameshift 0.00000828●●●●●●
161. 228482113 c.11392_11393delAG p.Arg3798GlyfsTer26 frameshift 0.00000828●●●●●●
162. 228482506 c.11421_11422delTG p.Val3808GlufsTer16 frameshift 0.00000831●●●●●●
163. 228482631 c.11546delG p.Arg3849SerfsTer154 frameshift 0.00000828●●●●●●
164. 228482734 c.11649_11650insA p.Thr3884AsnfsTer29 frameshift 0.00000828●●●●●●
165. 228482741 c.11656_11657delAG p.Arg3886GlyfsTer26 frameshift 0.00000828●●●●●●
166. 228494170 c.11757_11758insGT p.Val3921TrpfsTer83 frameshift 0.00004455●●●●●●
167. 228494209 c.11796delT p.Asn3932LysfsTer71 frameshift 0.00001742●●●●●●
168. 228495187 c.12421_12424delTGTG p.Cys4141Ter frameshift 0.00002156●●●●●●
169. 228496077 c.12732_12733insG p.Val4245GlyfsTer5 frameshift 0.00002397●●●●●●
170. 228505176 c.13573delC p.Pro4526GlnfsTer14 frameshift 0.00000874●●●●●●
171. 228505224 c.13621_13622delCT p.Leu4541ValfsTer8 frameshift 0.00010086●●●●●●
172. 228505361 c.13758delG p.Ala4587ProfsTer95 frameshift 0.00005061●●●●●●
173. 228505445 c.13842_13843delGC p.Arg4615AlafsTer16 frameshift 0.00002580●●●●●●
174. 228505634 c.13891delG p.Glu4631ArgfsTer51 frameshift 0.00000845●●●●●●
175. 228506855 c.14402_14403delCA p.Thr4803GlnfsTer3 frameshift 0.00003824●●●●●●
176. 228509236 c.14694_14695insA p.Met4899AsnfsTer67 frameshift 0.00003528●●●●●●
177. 228509266 c.14724delG p.Ala4909HisfsTer24 frameshift 0.00000856●●●●●●
178. 228509767 c.15225delC p.Gln5076ArgfsTer23 frameshift 0.00000957●●●●●●
179. 228522956 c.16362_16363insGC p.Gly5456ProfsTer24 frameshift 0.00007528●●●●●●
180. 228525737 c.16893delC p.Leu5632TrpfsTer63 frameshift 0.00000901●●●●●●
181. 228526004 c.17015dupG p.Ala5674GlyfsTer3 frameshift 0.00007015●●●●●●
182. 228526004 c.17015delG p.Ala5674ProfsTer21 frameshift 0.00004209●●●●●●
183. 228526041 c.17052_17053delTG p.Ser5686Ter frameshift 0.00001354●●●●●●
184. 228537735 c.18293delC p.Leu6099TrpfsTer13 frameshift 0.00004964●●●●●●
185. 228547505 c.18912delT p.Tyr6304Ter frameshift 0.00001531●●●●●●
186. 228547545 c.18952_18953delCT p.Ser6319GlyfsTer14 frameshift 0.00001586●●●●●●
187. 228547555 c.18962_18965delCCCA p.Pro6321ArgfsTer15 frameshift 0.00001584●●●●●●
188. 228547613 c.19020delC p.Pro6341ArgfsTer99 frameshift 0.00003787●●●●●●
189. 228547776 c.19183_19186delAGAG p.Arg6395SerfsTer44 frameshift 0.00004233●●●●●●
190. 228547853 c.19260delG p.Glu6421ArgfsTer19 frameshift 0.00000962●●●●●●
191. 228547951 c.19358_19359insC p.Lys6455GlnfsTer14 frameshift 0.00001674●●●●●●
192. 228548129 c.19536_19539delTGTG p.Val6513CysfsTer220 frameshift 0.00003491●●●●●●
193. 228548192 c.19599delG p.Glu6533AspfsTer201 frameshift 0.00000970●●●●●●
194. 228548217 c.19624delC p.Gln6543ArgfsTer191 frameshift 0.00000987●●●●●●
195. 228548391 c.19798_19799insC p.Val6600AlafsTer17 frameshift 0.00001887●●●●●●
196. 228548393 c.19800delG p.Glu6602ArgfsTer132 frameshift 0.00001890●●●●●●

* 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.