NOS3 variants in ExAC

NOS3 gene summary
NOS3 variants in

The table below lists the NOS3 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. 150696111 c.894T>G p.D298E missense 0.75301506●●●●●●
2. 150709571 c.3106+11G>T splice site 0.37790170●●●●●●
3. 150693556 c.335G>A p.R112Q missense 0.01060732●●●●●●
4. 150706640 c.2479G>A p.V827M missense 0.00491772●●●●●●
5. 150698349 c.1264G>A p.A422T missense 0.00388059●●●●●●
6. 150707344 c.2654G>T p.R885M missense 0.00365160●●●●●●
7. 150696076 c.859G>A p.D287N missense 0.00198339●●●●●●
8. 150693604 c.383G>A p.R128Q missense 0.00187284●●●●●●
9. 150704246 c.1994G>A p.R665H missense 0.00164286●●●●●●
10. 150708035 c.2945A>T p.Q982L missense 0.00121999●●●●●●
11. 150709453 c.2999G>A p.R1000Q missense 0.00097656●●●●●●
12. 150706321 c.2290C>T p.R764C missense 0.00071484●●●●●●
13. 150706545 c.2384C>T p.P795L missense 0.00069050●●●●●●
14. 150693567 c.346G>A p.G116S missense 0.00067019●●●●●●
15. 150698352 c.1267G>A p.A423T missense 0.00060396●●●●●●
16. 150704038 c.1882C>T p.R628W missense 0.00060154●●●●●●
17. 150710959 c.3403G>A p.G1135S missense 0.00056855●●●●●●
18. 150706618 c.2457C>G p.D819E missense 0.00042045●●●●●●
19. 150706014 c.2113-4G>A splice site 0.00039938●●●●●●
20. 150704372 c.2112+8_2112+9insG splice site 0.00036255●●●●●●
21. 150696271 c.957-7C>T splice site 0.00031315●●●●●●
22. 150693951 c.520G>A p.A174T missense 0.00029560●●●●●●
23. 150709452 c.2998C>T p.R1000W missense 0.00028210●●●●●●
24. 150693897 c.466G>A p.E156K missense 0.00027608●●●●●●
25. 150690922 c.31C>A p.P11T missense 0.00027216●●●●●●
26. 150693603 c.382C>T p.R128W missense 0.00026512●●●●●●
27. 150707251 c.2561C>T p.T854M missense 0.00025275●●●●●●
28. 150707257 c.2567G>A p.R856H missense 0.00024298●●●●●●
29. 150706596 c.2435C>T p.A812V missense 0.00023537●●●●●●
30. 150693556 c.335G>C p.R112P missense 0.00023399●●●●●●
31. 150699334 c.1694C>T p.T565M missense 0.00021669●●●●●●
32. 150704039 c.1883G>A p.R628Q missense 0.00020601●●●●●●
33. 150691010 c.119G>A p.R40Q missense 0.00020209●●●●●●
34. 150697616 c.1162C>T p.R388W missense 0.00019143●●●●●●
35. 150711017 c.3450+11_3450+12insCGGGC splice site 0.00019101●●●●●●
36. 150693540 c.319C>T p.R107W missense 0.00018618●●●●●●
37. 150695620 c.675-7G>A splice site 0.00018137●●●●●●
38. 150695543 c.674+7_674+8insC splice site 0.00018052●●●●●●
39. 150706517 c.2356G>A p.G786R missense 0.00017379●●●●●●
40. 150695778 c.816+10G>A splice site 0.00016514●●●●●●
41. 150695715 c.763C>T p.R255W missense 0.00016284●●●●●●
42. 150693598 c.377A>T p.Q126L missense 0.00016149●●●●●●
43. 150706532 c.2371C>A p.L791M missense 0.00015763●●●●●●
44. 150696067 c.850G>A p.G284S missense 0.00015169●●●●●●
45. 150697652 c.1198G>A p.V400M missense 0.00012528●●●●●●
46. 150693485 c.271-7G>A splice site 0.00012076●●●●●●
47. 150707679 c.2686-6C>T splice site 0.00011786●●●●●●
48. 150707332 c.2642C>T p.A881V missense 0.00011732●●●●●●
49. 150698654 c.1451C>T p.A484V missense 0.00011611●●●●●●
50. 150707680 c.2686-5G>A splice site 0.00011331●●●●●●
51. 150693933 c.502A>G p.S168G missense 0.00011265●●●●●●
52. 150711204 c.3559G>T p.G1187C missense 0.00011185●●●●●●
53. 150707692 c.2693G>A p.R898Q missense 0.00010851●●●●●●
54. 150698995 c.1589G>A p.R530Q missense 0.00010848●●●●●●
55. 150698506 c.1421G>A p.R474H missense 0.00010528●●●●●●
56. 150710805 c.3256-7C>G splice site 0.00010285●●●●●●
57. 150711013 c.3450+7A>G splice site 0.00010221●●●●●●
58. 150710308 c.3107-11G>A splice site 0.00010219●●●●●●
59. 150706502 c.2341G>C p.V781L missense 0.00010142●●●●●●
60. 150694018 c.582+5G>A splice site 0.00009703●●●●●●
61. 150706112 c.2207G>A p.R736Q missense 0.00009683●●●●●●
62. 150706088 c.2183G>A p.R728Q missense 0.00009045●●●●●●
63. 150706632 c.2471C>T p.T824I missense 0.00008941●●●●●●
64. 150707195 c.2513-8A>C splice site 0.00008920●●●●●●
65. 150706628 c.2467C>T p.P823S missense 0.00008818●●●●●●
66. 150706626 c.2465C>T p.A822V missense 0.00008667●●●●●●
67. 150711207 c.3562G>A p.A1188T missense 0.00008639●●●●●●
68. 150706604 c.2443A>G p.S815G missense 0.00007995●●●●●●
69. 150690986 c.95C>A p.A32D missense 0.00007915●●●●●●
70. 150692411 c.270+9G>A splice site 0.00007661●●●●●●
71. 150698904 c.1503-5C>T splice site 0.00007474●●●●●●
72. 150698668 c.1465G>A p.G489S missense 0.00007466●●●●●●
73. 150698367 c.1282A>G p.M428V missense 0.00007443●●●●●●
74. 150710806 c.3256-6C>T splice site 0.00007387●●●●●●
75. 150693541 c.320G>A p.R107Q missense 0.00007364●●●●●●
76. 150711091 c.3451-5G>A splice site 0.00007111●●●●●●
77. 150696045 c.828G>C p.Q276H missense 0.00006804●●●●●●
78. 150699058 c.1647+5G>A splice site 0.00006801●●●●●●
79. 150710827 c.3271A>C p.I1091L missense 0.00006737●●●●●●
80. 150704339 c.2087G>A p.R696Q missense 0.00006282●●●●●●
81. 150693486 c.271-6A>C splice site 0.00006002●●●●●●
82. 150692333 c.201G>C p.K67N missense 0.00005925●●●●●●
83. 150693984 c.553G>A p.V185M missense 0.00005818●●●●●●
84. 150707889 c.2890A>C p.T964P missense 0.00005797●●●●●●
85. 150693502 c.281G>C p.C94S missense 0.00005595●●●●●●
86. 150693972 c.541G>A p.A181T missense 0.00005215●●●●●●
87. 150696030 c.817-4delA splice site 0.00005153●●●●●●
88. 150692296 c.164C>T p.P55L missense 0.00005145●●●●●●
89. 150707695 c.2696G>A p.R899H missense 0.00005135●●●●●●
90. 150696369 c.1048G>A p.A350T missense 0.00005056●●●●●●
91. 150699033 c.1627C>T p.R543W missense 0.00005042●●●●●●
92. 150696079 c.862G>A p.V288M missense 0.00005039●●●●●●
93. 150696139 c.922G>A p.E308K missense 0.00005030●●●●●●
94. 150698997 c.1591G>A p.A531T missense 0.00005008●●●●●●
95. 150706302 c.2271G>T p.K757N missense 0.00004975●●●●●●
96. 150691059 c.158+10A>G splice site 0.00004971●●●●●●
97. 150703566 c.1804C>T p.R602W missense 0.00004966●●●●●●
98. 150698399 c.1314G>C p.R438S missense 0.00004965●●●●●●
99. 150698504 c.1419C>G p.F473L missense 0.00004380●●●●●●
100. 150708078 c.2984+4A>G splice site 0.00004373●●●●●●
101. 150693531 c.310G>A p.V104I missense 0.00004248●●●●●●
102. 150692359 c.227T>C p.V76A missense 0.00004239●●●●●●
103. 150711180 c.3535T>C p.S1179P missense 0.00004237●●●●●●
104. 150710975 c.3419A>T p.D1140V missense 0.00004197●●●●●●
105. 150707260 c.2570A>G p.Q857R missense 0.00004180●●●●●●
106. 150707314 c.2624G>A p.R875Q missense 0.00004174●●●●●●
107. 150703567 c.1805G>A p.R602Q missense 0.00004139●●●●●●
108. 150695665 c.713G>A p.R238Q missense 0.00004004●●●●●●
109. 150707895 c.2896G>A p.D966N missense 0.00003898●●●●●●
110. 150691037 c.146C>T p.A49V missense 0.00003893●●●●●●
111. 150706118 c.2213G>A p.S738N missense 0.00003833●●●●●●
112. 150693855 c.424G>A p.G142S missense 0.00003820●●●●●●
113. 150690929 c.38C>T p.P13L missense 0.00003813●●●●●●
114. 150692410 c.270+8C>T splice site 0.00003794●●●●●●
115. 150711244 c.3599C>T p.T1200I missense 0.00003747●●●●●●
116. 150691033 c.142C>T p.P48S missense 0.00003713●●●●●●
117. 150696461 c.1131+9C>T splice site 0.00003645●●●●●●
118. 150707192 c.2513-11A>G splice site 0.00003577●●●●●●
119. 150696436 c.1115G>A p.R372H missense 0.00003556●●●●●●
120. 150696408 c.1087G>A p.G363S missense 0.00003465●●●●●●
121. 150697687 c.1233G>C p.Q411H missense 0.00003449●●●●●●
122. 150692292 c.160C>A p.P54T missense 0.00003441●●●●●●
123. 150696273 c.957-5C>T splice site 0.00003386●●●●●●
124. 150696315 c.994G>A p.A332T missense 0.00003369●●●●●●
125. 150707256 c.2566C>G p.R856G missense 0.00003354●●●●●●
126. 150696145 c.928G>A p.V310I missense 0.00003354●●●●●●
127. 150695728 c.776G>A p.G259D missense 0.00003344●●●●●●
128. 150690980 c.89G>A p.G30D missense 0.00003335●●●●●●
129. 150698905 c.1503-4G>A splice site 0.00003321●●●●●●
130. 150698624 c.1429-8C>G splice site 0.00003320●●●●●●
131. 150698656 c.1453G>A p.A485T missense 0.00003318●●●●●●
132. 150706274 c.2246-3C>T splice site 0.00003315●●●●●●
133. 150698397 c.1312delA p.Arg438GlyfsTer66 frameshift 0.00003311●●●●●●
134. 150710412 c.3200G>C p.R1067P missense 0.00003308●●●●●●
135. 150703545 c.1783G>A p.G595S missense 0.00003307●●●●●●
136. 150693991 c.560G>A p.R187Q missense 0.00003196●●●●●●
137. 150706066 c.2161C>T p.R721X nonsense 0.00003158●●●●●●
138. 150704372 c.2112+8C>T splice site 0.00003108●●●●●●
139. 150709464 c.3010G>A p.D1004N missense 0.00003097●●●●●●
140. 150709549 c.3095T>G p.I1032S missense 0.00003084●●●●●●
141. 150695715 c.763C>G p.R255G missense 0.00003053●●●●●●
142. 150690939 c.48_49insCTGGGG p.Gly16_Leu17insLeuGly inframe 0.00003006●●●●●●
143. 150695652 c.700C>T p.R234C missense 0.00002958●●●●●●
144. 150693936 c.505G>A p.E169K missense 0.00002947●●●●●●
145. 150711009 c.3450+3G>A splice site 0.00002937●●●●●●
146. 150693985 c.554T>C p.V185A missense 0.00002935●●●●●●
147. 150690970 c.79G>A p.G27S missense 0.00002926●●●●●●
148. 150693607 c.386A>G p.D129G missense 0.00002883●●●●●●
149. 150691009 c.118C>T p.R40W missense 0.00002867●●●●●●
150. 150690926 c.35G>A p.G12E missense 0.00002817●●●●●●
151. 150707691 c.2692_2693insG p.Arg899ThrfsTer133 frameshift 0.00002804●●●●●●
152. 150707755 c.2756C>T p.P919L missense 0.00002802●●●●●●
153. 150707755 c.2756C>A p.P919Q missense 0.00002802●●●●●●
154. 150693555 c.334C>T p.R112W missense 0.00002779●●●●●●
155. 150690910 c.19G>A p.V7M missense 0.00002727●●●●●●
156. 150693978 c.547C>T p.R183C missense 0.00002722●●●●●●
157. 150707692 c.2693G>C p.R898P missense 0.00002713●●●●●●
158. 150711234 c.3589G>A p.G1197S missense 0.00002706●●●●●●
159. 150695772 c.816+4G>A splice site 0.00002661●●●●●●
160. 150693928 c.497G>A p.R166K missense 0.00002660●●●●●●
161. 150709471 c.3017G>C p.S1006T missense 0.00002657●●●●●●
162. 150707764 c.2765C>T p.A922V missense 0.00002630●●●●●●
163. 150698505 c.1420C>T p.R474C missense 0.00002630●●●●●●
164. 150710945 c.3389T>C p.I1130T missense 0.00002608●●●●●●
165. 150707245 c.2555C>T p.P852L missense 0.00002547●●●●●●
166. 150696049 c.832G>A p.G278S missense 0.00002546●●●●●●
167. 150707253 c.2563C>G p.L855V missense 0.00002521●●●●●●
168. 150707340 c.2650C>G p.P884A missense 0.00002518●●●●●●
169. 150696109 c.892G>A p.D298N missense 0.00002512●●●●●●
170. 150698443 c.1358C>T p.S453L missense 0.00002507●●●●●●
171. 150698985 c.1579G>A p.E527K missense 0.00002501●●●●●●
172. 150697623 c.1169C>T p.T390I missense 0.00002497●●●●●●
173. 150698965 c.1559C>G p.A520G missense 0.00002495●●●●●●
174. 150703570 c.1808C>T p.P603L missense 0.00002484●●●●●●
175. 150698399 c.1314G>T p.R438S missense 0.00002483●●●●●●
176. 150698401 c.1316G>C p.G439A missense 0.00002482●●●●●●
177. 150698403 c.1318G>T p.G440C missense 0.00002482●●●●●●
178. 150703510 c.1753-5G>A splice site 0.00002480●●●●●●
179. 150703509 c.1753-6C>T splice site 0.00002480●●●●●●
180. 150704184 c.1938-6delC splice site 0.00002474●●●●●●
181. 150693966 c.535C>T p.R179C missense 0.00002401●●●●●●
182. 150693559 c.338C>G p.P113R missense 0.00002388●●●●●●
183. 150695737 c.785G>A p.R262Q missense 0.00002291●●●●●●
184. 150699379 c.1739C>T p.P580L missense 0.00002290●●●●●●
185. 150706042 c.2137G>A p.G713R missense 0.00002245●●●●●●
186. 150695727 c.775G>A p.G259S missense 0.00002226●●●●●●
187. 150710886 c.3330C>G p.H1110Q missense 0.00002225●●●●●●
188. 150706049 c.2144A>T p.D715V missense 0.00002207●●●●●●
189. 150706064 c.2159C>T p.A720V missense 0.00002120●●●●●●
190. 150693565 c.344C>T p.P115L missense 0.00002063●●●●●●
191. 150693883 c.452A>G p.Q151R missense 0.00002037●●●●●●
192. 150695716 c.764G>A p.R255Q missense 0.00002034●●●●●●
193. 150695676 c.724C>T p.R242X nonsense 0.00002016●●●●●●
194. 150699321 c.1681C>T p.L561F missense 0.00002004●●●●●●
195. 150704367 c.2112+3G>A splice site 0.00002004●●●●●●
196. 150693876 c.445C>T p.R149W missense 0.00001984●●●●●●
197. 150699324 c.1684G>A p.E562K missense 0.00001984●●●●●●
198. 150709563 c.3106+3G>A splice site 0.00001982●●●●●●
199. 150695653 c.701G>A p.R234H missense 0.00001979●●●●●●
200. 150690937 c.46G>A p.G16S missense 0.00001969●●●●●●
201. 150707886 c.2887A>G p.R963G missense 0.00001929●●●●●●
202. 150693606 c.385G>A p.D129N missense 0.00001925●●●●●●
203. 150692412 c.270+10G>A splice site 0.00001921●●●●●●
204. 150706118 c.2213G>C p.S738T missense 0.00001916●●●●●●
205. 150695454 c.592G>A p.A198T missense 0.00001897●●●●●●
206. 150707718 c.2719C>T p.R907C missense 0.00001893●●●●●●
207. 150690922 c.31C>T p.P11S missense 0.00001877●●●●●●
208. 150690841 c.-51G>A splice site 0.00001868●●●●●●
209. 150707719 c.2720G>A p.R907H missense 0.00001866●●●●●●
210. 150695458 c.596G>A p.R199Q missense 0.00001866●●●●●●
211. 150707832 c.2833G>A p.A945T missense 0.00001856●●●●●●
212. 150707829 c.2830T>C p.S944P missense 0.00001855●●●●●●
213. 150693948 c.517G>T p.G173W missense 0.00001829●●●●●●
214. 150693948 c.517G>A p.G173R missense 0.00001829●●●●●●
215. 150695463 c.601T>C p.C201R missense 0.00001828●●●●●●
216. 150693947 c.516C>A p.F172L missense 0.00001822●●●●●●
217. 150695544 c.674+8C>T splice site 0.00001815●●●●●●
218. 150704338 c.2086C>T p.R696X nonsense 0.00001793●●●●●●
219. 150695536 c.674G>A p.R225H missense 0.00001791●●●●●●
220. 150695535 c.673C>T p.R225C missense 0.00001790●●●●●●
221. 150707211 c.2521C>G p.P841A missense 0.00001784●●●●●●
222. 150695530 c.668A>G p.N223S missense 0.00001783●●●●●●
223. 150711228 c.3583C>T p.P1195S missense 0.00001783●●●●●●
224. 150695531 c.669C>A p.N223K missense 0.00001782●●●●●●
225. 150695524 c.662G>A p.R221Q missense 0.00001774●●●●●●
226. 150695483 c.621G>C p.M207I missense 0.00001768●●●●●●
227. 150698516 c.1428+3G>A splice site 0.00001755●●●●●●
228. 150711211 c.3566T>G p.V1189G missense 0.00001733●●●●●●
229. 150706352 c.2321C>T p.S774F missense 0.00001728●●●●●●
230. 150707235 c.2545C>T p.R849W missense 0.00001726●●●●●●
231. 150708046 c.2956G>A p.G986R missense 0.00001722●●●●●●
232. 150692292 c.160C>T p.P54S missense 0.00001720●●●●●●
233. 150711201 c.3556C>T p.R1186W missense 0.00001718●●●●●●
234. 150711189 c.3544G>A p.E1182K missense 0.00001702●●●●●●
235. 150707361 c.2671G>C p.E891Q missense 0.00001701●●●●●●
236. 150699053 c.1647G>C splice site 0.00001697●●●●●●
237. 150699051 c.1645C>T p.R549W missense 0.00001695●●●●●●
238. 150710471 c.3255+4T>G splice site 0.00001695●●●●●●
239. 150692326 c.194G>T p.G65V missense 0.00001694●●●●●●
240. 150711176 c.3531C>G p.S1177R missense 0.00001694●●●●●●
241. 150692341 c.209G>A p.R70H missense 0.00001692●●●●●●
242. 150699039 c.1633G>T p.A545S missense 0.00001684●●●●●●
243. 150696071 c.854G>A p.R285H missense 0.00001683●●●●●●
244. 150696173 c.956C>T p.T319M missense 0.00001680●●●●●●
245. 150710461 c.3249C>G p.N1083K missense 0.00001680●●●●●●
246. 150699030 c.1624T>C p.F542L missense 0.00001679●●●●●●
247. 150704284 c.2032C>T p.R678W missense 0.00001678●●●●●●
248. 150696148 c.931C>T p.L311F missense 0.00001677●●●●●●
249. 150696132 c.915_916insC p.Glu308ArgfsTer5 frameshift 0.00001676●●●●●●
250. 150696107 c.890A>T p.D297V missense 0.00001675●●●●●●
251. 150696127 c.910C>T p.L304F missense 0.00001674●●●●●●
252. 150699000 c.1594C>T p.Q532X nonsense 0.00001670●●●●●●
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506. 150704035 c.1879C>T p.R627W missense 0.00000824●●●●●●
507. 150704062 c.1906_1909delACAG p.Asp637ValfsTer100 frameshift 0.00000824●●●●●●
508. 150703990 c.1834C>T p.R612C missense 0.00000824●●●●●●
509. 150703987 c.1831A>G p.I611V missense 0.00000824●●●●●●
510. 150704042 c.1886A>G p.K629R missense 0.00000824●●●●●●
511. 150704029 c.1873T>A p.S625T missense 0.00000824●●●●●●
512. 150704068 c.1912A>G p.S638G missense 0.00000824●●●●●●
513. 150704049 c.1893delG p.Glu632SerfsTer106 frameshift 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.