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