PRDM16 missense variants in ExAC

PRDM16 gene summary
PRDM16 variants in

The table below lists the PRDM16 missense 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. 3328358 c.1597T>C p.S533P missense 0.88968441●●●●●●
2. 3328659 c.1898C>T p.P633L missense 0.13102870●●●●●●
3. 3329300 c.2539A>T p.M847L missense 0.00542888●●●●●●
4. 3329213 c.2452G>A p.G818S missense 0.00441461●●●●●●
5. 3329229 c.2468G>C p.R823P missense 0.00419423●●●●●●
6. 3347452 c.3301G>A p.V1101M missense 0.00356661●●●●●●
7. 3102751 c.100G>A p.A34T missense 0.00201771●●●●●●
8. 3329229 c.2468G>A p.R823H missense 0.00147684●●●●●●
9. 3329267 c.2506G>A p.G836S missense 0.00143627●●●●●●
10. 3328327 c.1566G>T p.L522F missense 0.00140435●●●●●●
11. 3329051 c.2290G>A p.V764M missense 0.00121561●●●●●●
12. 3342635 c.3130C>T p.L1044F missense 0.00115329●●●●●●
13. 3348629 c.3621A>T p.E1207D missense 0.00098654●●●●●●
14. 3102793 c.142G>A p.V48M missense 0.00076398●●●●●●
15. 3328445 c.1684G>A p.V562I missense 0.00064205●●●●●●
16. 3334515 c.2815C>G p.L939V missense 0.00059461●●●●●●
17. 3329208 c.2447A>G p.N816S missense 0.00058150●●●●●●
18. 3329291 c.2530C>A p.P844T missense 0.00057318●●●●●●
19. 3328386 c.1625C>A p.T542N missense 0.00052844●●●●●●
20. 3329327 c.2566G>A p.A856T missense 0.00047066●●●●●●
21. 3328187 c.1426C>T p.P476S missense 0.00042459●●●●●●
22. 3328948 c.2187C>G p.F729L missense 0.00041528●●●●●●
23. 3102700 c.49G>A p.V17I missense 0.00035260●●●●●●
24. 3313127 c.646C>A p.P216T missense 0.00033986●●●●●●
25. 3319384 c.706G>A p.D236N missense 0.00032778●●●●●●
26. 3329337 c.2576C>T p.S859L missense 0.00031516●●●●●●
27. 3329042 c.2281G>A p.A761T missense 0.00030131●●●●●●
28. 3329057 c.2296G>A p.G766S missense 0.00028545●●●●●●
29. 3347612 c.3461A>C p.E1154A missense 0.00026810●●●●●●
30. 3301765 c.488C>T p.A163V missense 0.00024157●●●●●●
31. 3331186 c.2666C>T p.P889L missense 0.00023785●●●●●●
32. 3328470 c.1709C>T p.T570M missense 0.00023566●●●●●●
33. 3321352 c.934G>A p.D312N missense 0.00023413●●●●●●
34. 3328124 c.1363G>A p.G455S missense 0.00023253●●●●●●
35. 3329210 c.2449G>A p.G817S missense 0.00022920●●●●●●
36. 3328643 c.1882G>A p.D628N missense 0.00020939●●●●●●
37. 3347557 c.3406G>A p.G1136R missense 0.00019024●●●●●●
38. 3347578 c.3427G>A p.V1143M missense 0.00018949●●●●●●
39. 3329298 c.2537G>A p.R846Q missense 0.00018546●●●●●●
40. 3342788 c.3283C>T p.R1095W missense 0.00018355●●●●●●
41. 3331155 c.2635G>A p.V879M missense 0.00018048●●●●●●
42. 3319510 c.832G>A p.G278S missense 0.00017700●●●●●●
43. 3329264 c.2503G>A p.A835T missense 0.00017513●●●●●●
44. 3322119 c.1093G>T p.A365S missense 0.00016777●●●●●●
45. 3342659 c.3154G>A p.A1052T missense 0.00016607●●●●●●
46. 3328823 c.2062G>A p.A688T missense 0.00015895●●●●●●
47. 3328487 c.1726G>A p.E576K missense 0.00015103●●●●●●
48. 3329187 c.2426G>C p.S809T missense 0.00014513●●●●●●
49. 3301830 c.553A>G p.M185V missense 0.00014160●●●●●●
50. 3334515 c.2815C>A p.L939I missense 0.00013591●●●●●●
51. 3328796 c.2035G>A p.D679N missense 0.00013557●●●●●●
52. 3328335 c.1574G>A p.R525Q missense 0.00013438●●●●●●
53. 3334486 c.2786C>A p.P929H missense 0.00013399●●●●●●
54. 3328506 c.1745G>A p.R582H missense 0.00013398●●●●●●
55. 3328298 c.1537G>A p.G513S missense 0.00012649●●●●●●
56. 3301728 c.451C>G p.L151V missense 0.00011666●●●●●●
57. 3103004 c.353G>A p.R118Q missense 0.00010968●●●●●●
58. 3319462 c.784G>A p.E262K missense 0.00010932●●●●●●
59. 3342636 c.3131T>C p.L1044P missense 0.00010859●●●●●●
60. 3301758 c.481A>G p.N161D missense 0.00010828●●●●●●
61. 3328887 c.2126T>C p.M709T missense 0.00010800●●●●●●
62. 3328286 c.1525G>A p.A509T missense 0.00010117●●●●●●
63. 3328555 c.1794G>A p.M598I missense 0.00010032●●●●●●
64. 3348552 c.3544G>A p.G1182S missense 0.00009983●●●●●●
65. 3342685 c.3180C>G p.D1060E missense 0.00009949●●●●●●
66. 3102766 c.115G>A p.E39K missense 0.00009335●●●●●●
67. 3342629 c.3124G>A p.G1042R missense 0.00009238●●●●●●
68. 3328499 c.1738G>A p.E580K missense 0.00009217●●●●●●
69. 3328568 c.1807G>A p.D603N missense 0.00009204●●●●●●
70. 3334441 c.2741T>C p.M914T missense 0.00009132●●●●●●
71. 3342704 c.3199G>A p.E1067K missense 0.00009116●●●●●●
72. 3334509 c.2809C>G p.P937A missense 0.00008478●●●●●●
73. 3334497 c.2797C>T p.R933W missense 0.00008423●●●●●●
74. 3328523 c.1762G>A p.V588M missense 0.00008362●●●●●●
75. 3334447 c.2747C>T p.A916V missense 0.00008305●●●●●●
76. 3347582 c.3431C>A p.S1144Y missense 0.00007960●●●●●●
77. 3328278 c.1517C>T p.T506M missense 0.00007584●●●●●●
78. 3328316 c.1555C>T p.P519S missense 0.00007575●●●●●●
79. 3329036 c.2275C>T p.R759W missense 0.00007526●●●●●●
80. 3328997 c.2236G>A p.A746T missense 0.00007497●●●●●●
81. 3342158 c.2953G>A p.D985N missense 0.00007491●●●●●●
82. 3102797 c.146G>A p.G49E missense 0.00006791●●●●●●
83. 3319378 c.700G>A p.E234K missense 0.00006730●●●●●●
84. 3319387 c.709G>A p.E237K missense 0.00006722●●●●●●
85. 3342311 c.3106C>T p.P1036S missense 0.00006701●●●●●●
86. 3328557 c.1796C>T p.S599L missense 0.00006689●●●●●●
87. 3313121 c.640G>A p.V214I missense 0.00006458●●●●●●
88. 3329192 c.2431G>T p.A811S missense 0.00006225●●●●●●
89. 3334513 c.2813C>T p.T938M missense 0.00005941●●●●●●
90. 3319544 c.866T>C p.M289T missense 0.00005932●●●●●●
91. 3319398 c.720G>T p.Q240H missense 0.00005878●●●●●●
92. 3347458 c.3307G>A p.G1103S missense 0.00005833●●●●●●
93. 3348603 c.3595C>T p.R1199C missense 0.00005804●●●●●●
94. 3160661 c.398C>T p.T133M missense 0.00005804●●●●●●
95. 3350305 c.3761T>C p.L1254P missense 0.00005801●●●●●●
96. 3329203 c.2442C>A p.S814R missense 0.00005690●●●●●●
97. 3322066 c.1040C>T p.T347M missense 0.00005459●●●●●●
98. 3102694 c.43G>A p.G15S missense 0.00005169●●●●●●
99. 3334521 c.2821G>A p.D941N missense 0.00005115●●●●●●
100. 3334509 c.2809C>A p.P937T missense 0.00005087●●●●●●
101. 3348682 c.3674T>C p.L1225P missense 0.00005019●●●●●●
102. 3347638 c.3487G>A p.A1163T missense 0.00005015●●●●●●
103. 3301770 c.493G>A p.A165T missense 0.00004997●●●●●●
104. 3328907 c.2146C>G p.L716V missense 0.00004983●●●●●●
105. 3342716 c.3211T>A p.S1071T missense 0.00004972●●●●●●
106. 3342726 c.3221C>T p.S1074L missense 0.00004972●●●●●●
107. 3329196 c.2435G>A p.R812H missense 0.00004814●●●●●●
108. 3328728 c.1967C>T p.P656L missense 0.00004636●●●●●●
109. 3347623 c.3472G>T p.D1158Y missense 0.00004498●●●●●●
110. 3331138 c.2618G>A p.R873Q missense 0.00004350●●●●●●
111. 3329219 c.2458C>T p.R820W missense 0.00004295●●●●●●
112. 3102727 c.76C>T p.R26W missense 0.00004284●●●●●●
113. 3102825 c.174G>C p.E58D missense 0.00004248●●●●●●
114. 3329220 c.2459G>A p.R820Q missense 0.00004242●●●●●●
115. 3328467 c.1706C>T p.T569M missense 0.00004211●●●●●●
116. 3319489 c.811G>A p.E271K missense 0.00004210●●●●●●
117. 3328476 c.1715C>A p.A572D missense 0.00004204●●●●●●
118. 3319454 c.776C>T p.A259V missense 0.00004202●●●●●●
119. 3319414 c.736C>T p.R246W missense 0.00004198●●●●●●
120. 3328817 c.2056A>G p.T686A missense 0.00004193●●●●●●
121. 3334480 c.2780A>C p.H927P missense 0.00004175●●●●●●
122. 3329021 c.2260G>A p.E754K missense 0.00004172●●●●●●
123. 3301848 c.571C>G p.Q191E missense 0.00004168●●●●●●
124. 3328158 c.1397G>T p.S466I missense 0.00004158●●●●●●
125. 3348568 c.3560A>C p.E1187A missense 0.00004151●●●●●●
126. 3342681 c.3176C>T p.S1059L missense 0.00004146●●●●●●
127. 3348604 c.3596G>A p.R1199H missense 0.00004146●●●●●●
128. 3103010 c.359C>T p.A120V missense 0.00004096●●●●●●
129. 3347605 c.3454G>A p.A1152T missense 0.00003790●●●●●●
130. 3102983 c.332G>A p.G111D missense 0.00003737●●●●●●
131. 3328722 c.1961C>T p.A654V missense 0.00003724●●●●●●
132. 3328688 c.1927G>A p.A643T missense 0.00003647●●●●●●
133. 3347503 c.3352G>A p.V1118M missense 0.00003543●●●●●●
134. 3347536 c.3385G>T p.D1129Y missense 0.00003525●●●●●●
135. 3328646 c.1885G>A p.V629M missense 0.00003500●●●●●●
136. 3331137 c.2617C>T p.R873W missense 0.00003491●●●●●●
137. 3328623 c.1862C>T p.T621M missense 0.00003434●●●●●●
138. 3102728 c.77G>A p.R26Q missense 0.00003425●●●●●●
139. 3329164 c.2403G>C p.Q801H missense 0.00003404●●●●●●
140. 3319541 c.863G>A p.R288Q missense 0.00003388●●●●●●
141. 3321449 c.1031A>C p.K344T missense 0.00003382●●●●●●
142. 3328601 c.1840G>A p.D614N missense 0.00003381●●●●●●
143. 3319364 c.686C>T p.T229M missense 0.00003379●●●●●●
144. 3319369 c.691C>T p.R231C missense 0.00003372●●●●●●
145. 3321329 c.911C>T p.T304M missense 0.00003352●●●●●●
146. 3329037 c.2276G>A p.R759Q missense 0.00003346●●●●●●
147. 3342308 c.3103G>A p.A1035T missense 0.00003345●●●●●●
148. 3328827 c.2066C>G p.A689G missense 0.00003342●●●●●●
149. 3347438 c.3287C>T p.A1096V missense 0.00003333●●●●●●
150. 3342777 c.3272G>A p.R1091Q missense 0.00003326●●●●●●
151. 3334453 c.2753C>T p.S918L missense 0.00003323●●●●●●
152. 3328133 c.1372G>C p.A458P missense 0.00003323●●●●●●
153. 3160666 c.403G>A p.V135M missense 0.00003317●●●●●●
154. 3348631 c.3623T>C p.V1208A missense 0.00003316●●●●●●
155. 3350268 c.3724G>A p.E1242K missense 0.00003315●●●●●●
156. 3329153 c.2392G>A p.G798S missense 0.00003252●●●●●●
157. 3347593 c.3442G>A p.E1148K missense 0.00003187●●●●●●
158. 3313106 c.625C>T p.H209Y missense 0.00003019●●●●●●
159. 3347587 c.3436G>A p.A1146T missense 0.00002930●●●●●●
160. 3329139 c.2378C>T p.S793L missense 0.00002837●●●●●●
161. 3328691 c.1930G>A p.E644K missense 0.00002741●●●●●●
162. 3322092 c.1066A>C p.I356L missense 0.00002652●●●●●●
163. 3322095 c.1069C>T p.R357C missense 0.00002650●●●●●●
164. 3331131 c.2611G>A p.E871K missense 0.00002645●●●●●●
165. 3331183 c.2663G>A p.R888Q missense 0.00002636●●●●●●
166. 3102714 c.63G>A p.M21I missense 0.00002574●●●●●●
167. 3328617 c.1856C>T p.T619M missense 0.00002563●●●●●●
168. 3102760 c.109G>A p.E37K missense 0.00002549●●●●●●
169. 3319550 c.872C>T p.P291L missense 0.00002548●●●●●●
170. 3102797 c.146G>T p.G49V missense 0.00002547●●●●●●
171. 3328794 c.2033C>G p.P678R missense 0.00002547●●●●●●
172. 3334510 c.2810C>T p.P937L missense 0.00002544●●●●●●
173. 3319545 c.867G>A p.M289I missense 0.00002543●●●●●●
174. 3328293 c.1532C>A p.T511N missense 0.00002532●●●●●●
175. 3319522 c.844G>A p.E282K missense 0.00002531●●●●●●
176. 3347581 c.3430T>C p.S1144P missense 0.00002523●●●●●●
177. 3328334 c.1573C>T p.R525W missense 0.00002520●●●●●●
178. 3319418 c.740G>A p.R247H missense 0.00002519●●●●●●
179. 3319424 c.746A>G p.K249R missense 0.00002519●●●●●●
180. 3328242 c.1481A>C p.H494P missense 0.00002518●●●●●●
181. 3321424 c.1006C>T p.R336C missense 0.00002514●●●●●●
182. 3321337 c.919C>T p.R307C missense 0.00002512●●●●●●
183. 3321412 c.994G>A p.D332N missense 0.00002510●●●●●●
184. 3328550 c.1789G>C p.D597H missense 0.00002509●●●●●●
185. 3301722 c.445G>A p.E149K missense 0.00002500●●●●●●
186. 3328989 c.2228G>T p.R743L missense 0.00002498●●●●●●
187. 3328983 c.2222C>T p.T741M missense 0.00002497●●●●●●
188. 3348666 c.3658G>A p.A1220T missense 0.00002497●●●●●●
189. 3328970 c.2209C>T p.L737F missense 0.00002494●●●●●●
190. 3348571 c.3563C>T p.P1188L missense 0.00002490●●●●●●
191. 3160676 c.413C>T p.S138L missense 0.00002489●●●●●●
192. 3350338 c.3794C>T p.S1265L missense 0.00002488●●●●●●
193. 3328086 c.1325G>A p.R442Q missense 0.00002487●●●●●●
194. 3342695 c.3190C>T p.L1064F missense 0.00002487●●●●●●
195. 3313148 c.667G>A p.G223S missense 0.00002327●●●●●●
196. 3313143 c.662C>T p.P221L missense 0.00002061●●●●●●
197. 3313068 c.587T>C p.V196A missense 0.00002039●●●●●●
198. 3313139 c.658G>T p.V220L missense 0.00001964●●●●●●
199. 3328719 c.1958T>C p.L653S missense 0.00001858●●●●●●
200. 3328712 c.1951G>A p.G651S missense 0.00001853●●●●●●
201. 3347508 c.3357G>C p.E1119D missense 0.00001850●●●●●●
202. 3328737 c.1976C>T p.P659L missense 0.00001834●●●●●●
203. 3347506 c.3355G>A p.E1119K missense 0.00001808●●●●●●
204. 3329130 c.2369A>G p.K790R missense 0.00001794●●●●●●
205. 3331192 c.2672C>T p.P891L missense 0.00001780●●●●●●
206. 3334549 c.2849G>C p.R950P missense 0.00001773●●●●●●
207. 3328760 c.1999G>A p.V667I missense 0.00001773●●●●●●
208. 3331189 c.2669C>T p.S890F missense 0.00001771●●●●●●
209. 3328635 c.1874T>C p.L625P missense 0.00001733●●●●●●
210. 3329121 c.2360C>T p.P787L missense 0.00001731●●●●●●
211. 2985831 c.8C>T p.S3F missense 0.00001713●●●●●●
212. 3329105 c.2344G>A p.V782M missense 0.00001706●●●●●●
213. 3102880 c.229G>C p.D77H missense 0.00001704●●●●●●
214. 3102752 c.101C>T p.A34V missense 0.00001703●●●●●●
215. 3102754 c.103G>A p.E35K missense 0.00001700●●●●●●
216. 3102758 c.107A>C p.D36A missense 0.00001700●●●●●●
217. 3347488 c.3337G>A p.E1113K missense 0.00001698●●●●●●
218. 3348702 c.3694C>G p.Q1232E missense 0.00001697●●●●●●
219. 3319357 c.679G>A p.E227K missense 0.00001696●●●●●●
220. 3313128 c.647C>G p.P216R missense 0.00001696●●●●●●
221. 3322152 c.1126G>A p.A376T missense 0.00001695●●●●●●
222. 3319534 c.856T>C p.C286R missense 0.00001691●●●●●●
223. 3328593 c.1832C>T p.T611M missense 0.00001686●●●●●●
224. 3328463 c.1702G>A p.G568S missense 0.00001685●●●●●●
225. 3348532 c.3524G>A p.C1175Y missense 0.00001681●●●●●●
226. 3319382 c.704G>A p.C235Y missense 0.00001681●●●●●●
227. 3319456 c.778C>G p.L260V missense 0.00001681●●●●●●
228. 3328394 c.1633G>A p.A545T missense 0.00001679●●●●●●
229. 3319415 c.737G>A p.R246Q missense 0.00001679●●●●●●
230. 3328239 c.1478C>T p.P493L missense 0.00001678●●●●●●
231. 3328580 c.1819G>A p.V607I missense 0.00001676●●●●●●
232. 3329041 c.2280C>A p.D760E missense 0.00001674●●●●●●
233. 3348681 c.3673C>G p.L1225V missense 0.00001672●●●●●●
234. 3328553 c.1792A>C p.M598L missense 0.00001672●●●●●●
235. 3328562 c.1801G>A p.G601S missense 0.00001672●●●●●●
236. 3328550 c.1789G>A p.D597N missense 0.00001672●●●●●●
237. 3342639 c.3134C>T p.T1045M missense 0.00001669●●●●●●
238. 3313125 c.644A>G p.Y215C missense 0.00001668●●●●●●
239. 3301844 c.567T>G p.S189R missense 0.00001667●●●●●●
240. 3348546 c.3538G>A p.E1180K missense 0.00001667●●●●●●
241. 3328834 c.2073C>G p.D691E missense 0.00001667●●●●●●
242. 3347462 c.3311G>A p.S1104N missense 0.00001667●●●●●●
243. 3347437 c.3286G>A p.A1096T missense 0.00001667●●●●●●
244. 3301762 c.485A>T p.Q162L missense 0.00001666●●●●●●
245. 3301767 c.490G>A p.G164R missense 0.00001666●●●●●●
246. 3301801 c.524C>T p.A175V missense 0.00001666●●●●●●
247. 3342644 c.3139C>A p.H1047N missense 0.00001665●●●●●●
248. 3328181 c.1420C>G p.P474A missense 0.00001665●●●●●●
249. 3328850 c.2089G>T p.A697S missense 0.00001665●●●●●●
250. 3328874 c.2113G>A p.G705S missense 0.00001663●●●●●●
251. 3328152 c.1391C>A p.T464N missense 0.00001663●●●●●●
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507. 3334394 c.2694G>A p.M898I missense 0.00000829●●●●●●
508. 3348588 c.3580A>G p.K1194E missense 0.00000829●●●●●●
509. 3342677 c.3172G>A p.E1058K missense 0.00000829●●●●●●
510. 3350287 c.3743C>A p.T1248N missense 0.00000829●●●●●●
511. 3328017 c.1256G>A p.C419Y missense 0.00000828●●●●●●
512. 3328061 c.1300A>G p.T434A missense 0.00000828●●●●●●
513. 3328020 c.1259G>A p.R420H missense 0.00000828●●●●●●
514. 3328042 c.1281C>G p.D427E missense 0.00000828●●●●●●
515. 3328047 c.1286G>A p.G429D missense 0.00000828●●●●●●
516. 3328053 c.1292T>A p.M431K missense 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.