DMD missense variants in ExAC

DMD gene summary
DMD variants in

The table below lists the DMD 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. 31496350 c.8810G>A p.R2937Q missense 0.90452238●●●●●●
2. 32503194 c.2645A>G p.D882G missense 0.72107096●●●●●●
3. 32380996 c.5234G>A p.R1745H missense 0.51416735●●●●●●
4. 31893307 c.7096A>C p.K2366Q missense 0.27805773●●●●●●
5. 31496398 c.8762A>G p.H2921R missense 0.02629205●●●●●●
6. 31986607 c.6463C>T p.R2155W missense 0.02604755●●●●●●
7. 31496426 c.8734A>G p.N2912D missense 0.02223947●●●●●●
8. 31496431 c.8729A>T p.E2910V missense 0.02190123●●●●●●
9. 32466625 c.3734C>T p.T1245I missense 0.01486823●●●●●●
10. 32481582 c.3406A>T p.T1136S missense 0.01464729●●●●●●
11. 32429940 c.4162T>G p.F1388V missense 0.00978399●●●●●●
12. 32509625 c.2391T>G p.N797K missense 0.00766860●●●●●●
13. 32383146 c.5016T>A p.N1672K missense 0.00755399●●●●●●
14. 32404572 c.4529A>G p.K1510R missense 0.00539864●●●●●●
15. 32662355 c.1225A>T p.T409S missense 0.00386977●●●●●●
16. 32613922 c.1554T>A p.D518E missense 0.00380641●●●●●●
17. 32235149 c.6322C>T p.R2108C missense 0.00373585●●●●●●
18. 32563301 c.2143A>T p.T715S missense 0.00208230●●●●●●
19. 32583923 c.1888A>G p.T630A missense 0.00154471●●●●●●
20. 32486806 c.2971G>C p.E991Q missense 0.00153960●●●●●●
21. 32591741 c.1718C>T p.A573V missense 0.00145602●●●●●●
22. 32563447 c.1997C>T p.S666L missense 0.00143202●●●●●●
23. 32381067 c.5163G>C p.K1721N missense 0.00119540●●●●●●
24. 32613963 c.1513G>C p.V505L missense 0.00117443●●●●●●
25. 32509447 c.2569C>T p.P857S missense 0.00109407●●●●●●
26. 32381048 c.5182C>T p.R1728C missense 0.00102679●●●●●●
27. 32456459 c.3970C>T p.R1324C missense 0.00080390●●●●●●
28. 31854852 c.7183G>A p.A2395T missense 0.00074082●●●●●●
29. 31222203 c.9682T>C p.F3228L missense 0.00070530●●●●●●
30. 32591900 c.1666G>A p.D556N missense 0.00066784●●●●●●
31. 32364161 c.5485C>G p.Q1829E missense 0.00064223●●●●●●
32. 32663135 c.1095A>C p.Q365H missense 0.00061550●●●●●●
33. 32716024 c.923C>T p.T308I missense 0.00061014●●●●●●
34. 32563348 c.2096C>G p.A699G missense 0.00059623●●●●●●
35. 31792147 c.7472A>G p.Q2491R missense 0.00059359●●●●●●
36. 32305796 c.6140A>G p.Q2047R missense 0.00058640●●●●●●
37. 32662262 c.1318G>A p.E440K missense 0.00050928●●●●●●
38. 31854884 c.7151C>A p.S2384Y missense 0.00042166●●●●●●
39. 32536244 c.2173G>T p.D725Y missense 0.00039853●●●●●●
40. 32536156 c.2261G>T p.G754V missense 0.00039498●●●●●●
41. 31986499 c.6571C>T p.R2191W missense 0.00038861●●●●●●
42. 32536126 c.2291A>G p.N764S missense 0.00037117●●●●●●
43. 31462737 c.8945G>A p.R2982Q missense 0.00036625●●●●●●
44. 31747837 c.7571G>A p.R2524H missense 0.00036463●●●●●●
45. 32481569 c.3419A>G p.H1140R missense 0.00035863●●●●●●
46. 31462708 c.8974G>A p.V2992M missense 0.00033119●●●●●●
47. 32509630 c.2386G>A p.V796I missense 0.00032700●●●●●●
48. 32536144 c.2273A>C p.D758A missense 0.00032470●●●●●●
49. 32632565 c.1337A>G p.H446R missense 0.00031470●●●●●●
50. 32472949 c.3433G>C p.V1145L missense 0.00030984●●●●●●
51. 32361370 c.5620G>A p.E1874K missense 0.00030875●●●●●●
52. 31838158 c.7243C>T p.R2415C missense 0.00030828●●●●●●
53. 32482762 c.3217G>A p.E1073K missense 0.00030815●●●●●●
54. 32583877 c.1934A>G p.D645G missense 0.00030803●●●●●●
55. 32364170 c.5476G>C p.E1826Q missense 0.00028043●●●●●●
56. 32459424 c.3794G>C p.W1265S missense 0.00027627●●●●●●
57. 32486757 c.3020C>T p.S1007L missense 0.00026818●●●●●●
58. 32328332 c.5984A>T p.Y1995F missense 0.00026798●●●●●●
59. 32235151 c.6320G>A p.R2107Q missense 0.00026400●●●●●●
60. 32383152 c.5010G>T p.W1670C missense 0.00026305●●●●●●
61. 31525480 c.8308G>A p.D2770N missense 0.00025856●●●●●●
62. 32716015 c.932A>G p.D311G missense 0.00025570●●●●●●
63. 32591728 c.1731A>T p.E577D missense 0.00024034●●●●●●
64. 32662328 c.1252A>T p.T418S missense 0.00023984●●●●●●
65. 32481662 c.3326A>T p.N1109I missense 0.00023748●●●●●●
66. 32364136 c.5510G>C p.R1837T missense 0.00022214●●●●●●
67. 32459402 c.3816G>C p.L1272F missense 0.00021775●●●●●●
68. 32430009 c.4093C>T p.L1365F missense 0.00021217●●●●●●
69. 32407763 c.4373T>A p.F1458Y missense 0.00020608●●●●●●
70. 32472910 c.3472A>G p.K1158E missense 0.00020594●●●●●●
71. 32717364 c.696C>G p.I232M missense 0.00020582●●●●●●
72. 32663245 c.985T>A p.S329T missense 0.00020559●●●●●●
73. 31525533 c.8255A>G p.Y2752C missense 0.00020431●●●●●●
74. 32490426 c.2804T>G p.I935S missense 0.00019828●●●●●●
75. 32429987 c.4115C>T p.A1372V missense 0.00019783●●●●●●
76. 31676146 c.7988C>G p.T2663R missense 0.00018273●●●●●●
77. 32662396 c.1184G>A p.R395Q missense 0.00018268●●●●●●
78. 32360312 c.5827A>G p.M1943V missense 0.00017942●●●●●●
79. 32490406 c.2824A>G p.M942V missense 0.00017206●●●●●●
80. 32490403 c.2827C>T p.R943C missense 0.00017200●●●●●●
81. 32361267 c.5723A>T p.D1908V missense 0.00017157●●●●●●
82. 32381027 c.5203C>T p.R1735C missense 0.00016537●●●●●●
83. 31165612 c.10577G>A p.R3526H missense 0.00016085●●●●●●
84. 31496393 c.8767G>T p.A2923S missense 0.00015995●●●●●●
85. 32361289 c.5701G>A p.A1901T missense 0.00015992●●●●●●
86. 32486700 c.3077A>G p.E1026G missense 0.00015204●●●●●●
87. 32398728 c.4744G>A p.V1582I missense 0.00014859●●●●●●
88. 31241200 c.9325G>T p.A3109S missense 0.00014819●●●●●●
89. 31893318 c.7085C>A p.P2362Q missense 0.00014103●●●●●●
90. 32490388 c.2842A>G p.M948V missense 0.00013715●●●●●●
91. 32663202 c.1028G>A p.R343H missense 0.00013684●●●●●●
92. 32328383 c.5933G>A p.R1978H missense 0.00013438●●●●●●
93. 32383286 c.4876G>A p.V1626M missense 0.00012676●●●●●●
94. 31950227 c.6732G>C p.Q2244H missense 0.00012581●●●●●●
95. 32717239 c.821A>G p.Y274C missense 0.00012580●●●●●●
96. 32490346 c.2884C>G p.L962V missense 0.00012555●●●●●●
97. 32509404 c.2612A>C p.K871T missense 0.00012535●●●●●●
98. 32305793 c.6143G>A p.S2048N missense 0.00012500●●●●●●
99. 32430011 c.4091T>C p.L1364S missense 0.00011793●●●●●●
100. 32366578 c.5393A>T p.E1798V missense 0.00011784●●●●●●
101. 32466724 c.3635C>T p.A1212V missense 0.00011636●●●●●●
102. 31792222 c.7397T>C p.M2466T missense 0.00011433●●●●●●
103. 31645869 c.8138A>G p.N2713S missense 0.00010965●●●●●●
104. 31697583 c.7781A>G p.Q2594R missense 0.00010820●●●●●●
105. 32456470 c.3959C>G p.P1320R missense 0.00010351●●●●●●
106. 32490402 c.2828G>A p.R943H missense 0.00010310●●●●●●
107. 32509441 c.2575A>T p.T859S missense 0.00010256●●●●●●
108. 31496308 c.8852G>A p.R2951H missense 0.00009961●●●●●●
109. 32591878 c.1688G>A p.R563H missense 0.00009531●●●●●●
110. 32398788 c.4684A>G p.R1562G missense 0.00009243●●●●●●
111. 32382805 c.5048C>G p.T1683S missense 0.00009160●●●●●●
112. 32482710 c.3269A>T p.Q1090L missense 0.00009156●●●●●●
113. 32591717 c.1742C>T p.A581V missense 0.00009152●●●●●●
114. 32482797 c.3182A>G p.K1061R missense 0.00009137●●●●●●
115. 31792192 c.7427A>G p.N2476S missense 0.00009134●●●●●●
116. 31854905 c.7130C>T p.P2377L missense 0.00009118●●●●●●
117. 31645860 c.8147A>G p.Q2716R missense 0.00008485●●●●●●
118. 31366745 c.9091G>A p.V3031I missense 0.00008471●●●●●●
119. 31222208 c.9677C>T p.T3226I missense 0.00008422●●●●●●
120. 32486730 c.3047G>A p.R1016Q missense 0.00008344●●●●●●
121. 31697544 c.7820A>T p.K2607M missense 0.00008296●●●●●●
122. 32481609 c.3379C>G p.L1127V missense 0.00008273●●●●●●
123. 32381026 c.5204G>A p.R1735H missense 0.00008265●●●●●●
124. 31497186 c.8582T>C p.V2861A missense 0.00008242●●●●●●
125. 31227768 c.9410A>G p.N3137S missense 0.00008204●●●●●●
126. 31515053 c.8399T>C p.L2800S missense 0.00008151●●●●●●
127. 32328258 c.6058G>C p.A2020P missense 0.00008056●●●●●●
128. 32591746 c.1713T>A p.F571L missense 0.00008030●●●●●●
129. 32472937 c.3445A>G p.K1149E missense 0.00008023●●●●●●
130. 32482806 c.3173A>G p.Q1058R missense 0.00008002●●●●●●
131. 31838157 c.7244G>A p.R2415H missense 0.00007993●●●●●●
132. 32663226 c.1004T>C p.M335T missense 0.00007987●●●●●●
133. 32716063 c.884G>A p.R295Q missense 0.00007985●●●●●●
134. 32663099 c.1131C>G p.D377E missense 0.00007983●●●●●●
135. 31947729 c.6896A>C p.N2299T missense 0.00007979●●●●●●
136. 31496275 c.8885C>T p.P2962L missense 0.00007788●●●●●●
137. 32235084 c.6387G>T p.K2129N missense 0.00007717●●●●●●
138. 31893450 c.6953C>T p.A2318V missense 0.00007292●●●●●●
139. 32503075 c.2764T>G p.F922V missense 0.00007241●●●●●●
140. 32383285 c.4877T>A p.V1626E missense 0.00006909●●●●●●
141. 32459326 c.3892G>A p.G1298R missense 0.00006898●●●●●●
142. 32456399 c.4030C>T p.L1344F missense 0.00006895●●●●●●
143. 32717327 c.733A>G p.I245V missense 0.00006854●●●●●●
144. 32841474 c.295A>G p.I99V missense 0.00006841●●●●●●
145. 31645924 c.8083C>T p.P2695S missense 0.00006577●●●●●●
146. 32481705 c.3283G>C p.V1095L missense 0.00006432●●●●●●
147. 32486625 c.3152G>A p.R1051Q missense 0.00006335●●●●●●
148. 32328383 c.5933G>T p.R1978L missense 0.00006108●●●●●●
149. 32613894 c.1582G>A p.A528T missense 0.00006080●●●●●●
150. 32509558 c.2458A>C p.S820R missense 0.00005982●●●●●●
151. 31497112 c.8656C>G p.Q2886E missense 0.00005861●●●●●●
152. 31165528 c.10661G>A p.R3554Q missense 0.00005830●●●●●●
153. 32536168 c.2249T>C p.F750S missense 0.00005828●●●●●●
154. 32381014 c.5216C>A p.A1739E missense 0.00005799●●●●●●
155. 32456493 c.3936G>C p.L1312F missense 0.00005796●●●●●●
156. 32456488 c.3941G>A p.R1314Q missense 0.00005779●●●●●●
157. 32328264 c.6052C>A p.L2018I missense 0.00005754●●●●●●
158. 31697617 c.7747A>G p.T2583A missense 0.00005753●●●●●●
159. 31496483 c.8677C>T p.P2893S missense 0.00005733●●●●●●
160. 32563364 c.2080A>T p.I694F missense 0.00005726●●●●●●
161. 32398751 c.4721G>A p.R1574H missense 0.00005725●●●●●●
162. 31792190 c.7429C>T p.R2477W missense 0.00005709●●●●●●
163. 32509477 c.2539A>G p.T847A missense 0.00005701●●●●●●
164. 32509409 c.2607G>C p.Q869H missense 0.00005698●●●●●●
165. 31366742 c.9094G>A p.E3032K missense 0.00005612●●●●●●
166. 32716024 c.923C>A p.T308N missense 0.00005193●●●●●●
167. 32486642 c.3135G>T p.E1045D missense 0.00004997●●●●●●
168. 32716067 c.880C>T p.P294S missense 0.00004967●●●●●●
169. 31645795 c.8212T>C p.W2738R missense 0.00004951●●●●●●
170. 32305785 c.6151C>T p.R2051W missense 0.00004845●●●●●●
171. 31279093 c.9265A>T p.T3089S missense 0.00004837●●●●●●
172. 31227783 c.9395C>A p.A3132D missense 0.00004797●●●●●●
173. 31165546 c.10643C>T p.T3548I missense 0.00004785●●●●●●
174. 32430020 c.4082G>T p.R1361M missense 0.00004772●●●●●●
175. 32591879 c.1687C>T p.R563C missense 0.00004765●●●●●●
176. 31164483 c.10846A>G p.T3616A missense 0.00004665●●●●●●
177. 32536166 c.2251C>T p.R751W missense 0.00004661●●●●●●
178. 31525476 c.8312A>C p.D2771A missense 0.00004660●●●●●●
179. 32383300 c.4862T>C p.I1621T missense 0.00004647●●●●●●
180. 32456443 c.3986C>T p.T1329I missense 0.00004591●●●●●●
181. 32459413 c.3805C>T p.H1269Y missense 0.00004590●●●●●●
182. 32663263 c.967G>A p.E323K missense 0.00004586●●●●●●
183. 32472886 c.3496C>G p.L1166V missense 0.00004573●●●●●●
184. 31525440 c.8348A>G p.N2783S missense 0.00004572●●●●●●
185. 32717332 c.728T>C p.V243A missense 0.00004570●●●●●●
186. 32398710 c.4762G>T p.A1588S missense 0.00004570●●●●●●
187. 32867886 c.145C>T p.R49C missense 0.00004570●●●●●●
188. 31838166 c.7235C>T p.A2412V missense 0.00004569●●●●●●
189. 32383222 c.4940C>T p.T1647M missense 0.00004569●●●●●●
190. 32361318 c.5672A>T p.K1891I missense 0.00004568●●●●●●
191. 32407680 c.4456C>T p.P1486S missense 0.00004567●●●●●●
192. 31227699 c.9479G>A p.R3160H missense 0.00004565●●●●●●
193. 32583892 c.1919C>T p.T640M missense 0.00004565●●●●●●
194. 32583887 c.1924G>A p.A642T missense 0.00004564●●●●●●
195. 32834681 c.434G>A p.R145Q missense 0.00004560●●●●●●
196. 31227674 c.9504G>C p.L3168F missense 0.00004560●●●●●●
197. 32663164 c.1066C>T p.L356F missense 0.00004559●●●●●●
198. 32509437 c.2579C>T p.P860L missense 0.00004558●●●●●●
199. 31747853 c.7555G>A p.D2519N missense 0.00004558●●●●●●
200. 31747750 c.7658G>A p.R2553Q missense 0.00004558●●●●●●
201. 31893463 c.6940G>A p.G2314R missense 0.00004510●●●●●●
202. 32305808 c.6128A>G p.D2043G missense 0.00004507●●●●●●
203. 31224768 c.9580A>C p.I3194L missense 0.00004177●●●●●●
204. 31196083 c.10228G>T p.V3410F missense 0.00004172●●●●●●
205. 31196083 c.10228G>A p.V3410I missense 0.00004172●●●●●●
206. 31525569 c.8219A>G p.D2740G missense 0.00003961●●●●●●
207. 31496267 c.8893G>A p.D2965N missense 0.00003944●●●●●●
208. 32381053 c.5177A>G p.D1726G missense 0.00003906●●●●●●
209. 32486695 c.3082C>T p.R1028C missense 0.00003870●●●●●●
210. 32716009 c.938C>T p.T313I missense 0.00003793●●●●●●
211. 32360270 c.5869C>T p.R1957W missense 0.00003788●●●●●●
212. 32591953 c.1613A>T p.D538V missense 0.00003783●●●●●●
213. 32360275 c.5864G>A p.R1955H missense 0.00003752●●●●●●
214. 31496309 c.8851C>T p.R2951C missense 0.00003726●●●●●●
215. 32519956 c.2296A>G p.I766V missense 0.00003695●●●●●●
216. 32632520 c.1382A>G p.N461S missense 0.00003680●●●●●●
217. 32536207 c.2210G>A p.R737H missense 0.00003607●●●●●●
218. 31496332 c.8828C>T p.T2943M missense 0.00003593●●●●●●
219. 32366585 c.5386C>T p.P1796S missense 0.00003575●●●●●●
220. 32613958 c.1518G>T p.R506S missense 0.00003549●●●●●●
221. 32364075 c.5571A>C p.K1857N missense 0.00003545●●●●●●
222. 32328353 c.5963A>G p.D1988G missense 0.00003530●●●●●●
223. 32364187 c.5459A>G p.N1820S missense 0.00003522●●●●●●
224. 32632490 c.1412C>T p.T471I missense 0.00003508●●●●●●
225. 32364157 c.5489G>T p.R1830I missense 0.00003503●●●●●●
226. 32366571 c.5400A>C p.E1800D missense 0.00003496●●●●●●
227. 32536165 c.2252G>A p.R751Q missense 0.00003495●●●●●●
228. 32536157 c.2260G>T p.G754C missense 0.00003485●●●●●●
229. 32472795 c.3587C>T p.A1196V missense 0.00003464●●●●●●
230. 32503117 c.2722G>T p.D908Y missense 0.00003459●●●●●●
231. 32662271 c.1309G>C p.A437P missense 0.00003459●●●●●●
232. 32466703 c.3656A>C p.E1219A missense 0.00003457●●●●●●
233. 32632440 c.1462C>T p.R488C missense 0.00003456●●●●●●
234. 32466685 c.3674T>C p.I1225T missense 0.00003448●●●●●●
235. 32563327 c.2117C>A p.P706Q missense 0.00003447●●●●●●
236. 32361391 c.5599C>G p.Q1867E missense 0.00003442●●●●●●
237. 32459361 c.3857A>T p.E1286V missense 0.00003441●●●●●●
238. 32305734 c.6202C>T p.P2068S missense 0.00003441●●●●●●
239. 32509513 c.2503T>C p.F835L missense 0.00003438●●●●●●
240. 32827695 c.564C>G p.C188W missense 0.00003438●●●●●●
241. 32563365 c.2079G>T p.Q693H missense 0.00003436●●●●●●
242. 32563384 c.2060C>T p.T687M missense 0.00003433●●●●●●
243. 31676257 c.7877T>C p.L2626S missense 0.00003432●●●●●●
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976. 31854911 c.7124A>T p.K2375I missense 0.00001140●●●●●●
977. 32663121 c.1109A>T p.N370I missense 0.00001140●●●●●●
978. 31947750 c.6875A>G p.E2292G missense 0.00001140●●●●●●
979. 32841476 c.293A>G p.D98G missense 0.00001140●●●●●●
980. 32663172 c.1058C>T p.S353L missense 0.00001140●●●●●●
981. 32663203 c.1027C>T p.R343C missense 0.00001140●●●●●●
982. 32834636 c.479C>T p.T160I missense 0.00001140●●●●●●
983. 31947787 c.6838A>C p.S2280R missense 0.00001140●●●●●●
984. 31947807 c.6818C>T p.T2273I missense 0.00001140●●●●●●
985. 32380939 c.5291T>C p.F1764S missense 0.00001140●●●●●●
986. 31947734 c.6891G>T p.Q2297H missense 0.00001140●●●●●●
987. 32834672 c.443C>T p.T148I missense 0.00001140●●●●●●
988. 31854923 c.7112C>A p.A2371E missense 0.00001140●●●●●●
989. 32834686 c.429G>T p.W143C missense 0.00001140●●●●●●
990. 32663133 c.1097G>A p.G366E missense 0.00001140●●●●●●
991. 31947713 c.6912G>T p.K2304N missense 0.00001140●●●●●●
992. 31947762 c.6863A>G p.Q2288R missense 0.00001140●●●●●●
993. 32509444 c.2572A>T p.T858S missense 0.00001140●●●●●●
994. 32380915 c.5315A>T p.K1772M missense 0.00001140●●●●●●
995. 32834720 c.395A>G p.Q132R missense 0.00001140●●●●●●
996. 31854887 c.7148T>C p.L2383S missense 0.00001140●●●●●●
997. 32834646 c.469A>G p.I157V missense 0.00001140●●●●●●
998. 32663109 c.1121T>A p.V374E missense 0.00001140●●●●●●
999. 31241173 c.9352G>T p.A3118S missense 0.00001140●●●●●●
1000. 31947790 c.6835G>T p.V2279L missense 0.00001140●●●●●●
1001. 31241196 c.9329T>C p.M3110T missense 0.00001140●●●●●●
1002. 31227679 c.9499A>C p.N3167H missense 0.00001140●●●●●●
1003. 31947738 c.6887A>G p.K2296R missense 0.00001140●●●●●●
1004. 32841459 c.310C>A p.H104N missense 0.00001140●●●●●●
1005. 32663133 c.1097G>T p.G366V missense 0.00001140●●●●●●
1006. 32834689 c.426C>G p.S142R missense 0.00001140●●●●●●
1007. 32509396 c.2620A>G p.K874E missense 0.00001140●●●●●●
1008. 32509465 c.2551A>C p.N851H missense 0.00001140●●●●●●
1009. 32380923 c.5307C>G p.H1769Q missense 0.00001140●●●●●●
1010. 32834726 c.389G>A p.G130E missense 0.00001140●●●●●●
1011. 32380960 c.5270T>C p.I1757T missense 0.00001140●●●●●●
1012. 32663118 c.1112A>G p.D371G missense 0.00001140●●●●●●
1013. 31747823 c.7585G>C p.E2529Q missense 0.00001139●●●●●●
1014. 31747756 c.7652C>T p.T2551M missense 0.00001139●●●●●●
1015. 31747773 c.7635G>C p.E2545D missense 0.00001139●●●●●●
1016. 31747819 c.7589T>G p.L2530R missense 0.00001139●●●●●●

* 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.