DMD splice variants in ExAC

DMD gene summary
DMD variants in

The table below lists the DMD splice 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. 31676096 c.8027+11C>T splice site 0.33977601●●●●●●
2. 32867947 c.94-10_94-9insT splice site 0.09626392●●●●●●
3. 32503227 c.2623-11C>G splice site 0.00905903●●●●●●
4. 32472771 c.3603+8A>G splice site 0.00235225●●●●●●
5. 32509638 c.2381-3T>C splice site 0.00180573●●●●●●
6. 32519861 c.2380+11G>A splice site 0.00109137●●●●●●
7. 32867946 c.94-9T>A splice site 0.00075793●●●●●●
8. 32614000 c.1483-7C>G splice site 0.00063891●●●●●●
9. 0 c.2950-12delA splice site 0.00042191●●●●●●
10. 32591647 c.1812C>T p.A604A splice site 0.00035873●●●●●●
11. 31986448 c.6614+8G>A splice site 0.00034333●●●●●●
12. 31676100 c.8027+7A>T splice site 0.00032095●●●●●●
13. 31792316 c.7310-7A>G splice site 0.00029975●●●●●●
14. 32519862 c.2380+10C>T splice site 0.00026975●●●●●●
15. 32235190 c.6291-10T>C splice site 0.00025949●●●●●●
16. 32486611 c.3162+4A>G splice site 0.00024673●●●●●●
17. 31341774 c.9165G>A p.T3055T splice site 0.00022134●●●●●●
18. 32584001 c.1813-3C>A splice site 0.00017325●●●●●●
19. 32382834 c.5026-7A>G splice site 0.00017233●●●●●●
20. 31525575 c.8218-5T>C splice site 0.00015366●●●●●●
21. 32398617 c.4845+10A>G splice site 0.00014887●●●●●●
22. 32486610 c.3162+5T>C splice site 0.00013968●●●●●●
23. 31986449 c.6614+7C>T splice site 0.00013732●●●●●●
24. 31224789 c.9564-5A>G splice site 0.00013237●●●●●●
25. 32398795 c.4677A>T splice site 0.00011623●●●●●●
26. 32716118 c.832-3C>T splice site 0.00011374●●●●●●
27. 32481548 c.3432+8C>A splice site 0.00010656●●●●●●
28. 32591643 c.1812+4T>C splice site 0.00010460●●●●●●
29. 31144796 c.11015-6_11015-4delTTA splice site 0.00010075●●●●●●
30. 32841513 c.265-9_265-6delCTTT splice site 0.00009137●●●●●●
31. 32834578 c.530+7A>T splice site 0.00008012●●●●●●
32. 32591969 c.1603-6C>T splice site 0.00007819●●●●●●
33. 32867940 c.94-3C>T splice site 0.00007263●●●●●●
34. 32563278 c.2166A>G p.K722K splice site 0.00007046●●●●●●
35. 31196087 c.10224T>A splice site 0.00006984●●●●●●
36. 31224691 c.9649+8G>A splice site 0.00006828●●●●●●
37. 32591967 c.1603-4C>A splice site 0.00006491●●●●●●
38. 32591859 c.1704+3G>A splice site 0.00005987●●●●●●
39. 31241249 c.9287-11C>T splice site 0.00005717●●●●●●
40. 31893493 c.6913-3C>A splice site 0.00005473●●●●●●
41. 32536255 c.2169-7_2169-4delGTCT splice site 0.00005326●●●●●●
42. 32430033 c.4072-3T>C splice site 0.00004857●●●●●●
43. 32591752 c.1707C>T p.C569C splice site 0.00004595●●●●●●
44. 32834764 c.358-7C>T splice site 0.00004590●●●●●●
45. 32305823 c.6118-5T>C splice site 0.00004519●●●●●●
46. 32519967 c.2293-8T>C splice site 0.00004068●●●●●●
47. 32591967 c.1603-4C>G splice site 0.00003894●●●●●●
48. 32632413 c.1482+7G>T splice site 0.00003481●●●●●●
49. 31986449 c.6614+7C>A splice site 0.00003433●●●●●●
50. 31164403 c.10921+5G>A splice site 0.00003430●●●●●●
51. 31241246 c.9287-8C>T splice site 0.00003427●●●●●●
52. 32503225 c.2623-9A>G splice site 0.00003426●●●●●●
53. 32509643 c.2381-8C>A splice site 0.00003368●●●●●●
54. 31697489 c.7872+3T>C splice site 0.00003036●●●●●●
55. 31152317 c.10922-6A>T splice site 0.00002664●●●●●●
56. 32430038 c.4072-8C>A splice site 0.00002442●●●●●●
57. 32867947 c.94-10_94-9insTT splice site 0.00002375●●●●●●
58. 31497223 c.8548-3C>T splice site 0.00002369●●●●●●
59. 32717415 c.650-5T>C splice site 0.00002305●●●●●●
60. 32663273 c.961-4delG splice site 0.00002300●●●●●●
61. 31676267 c.7873-6C>A splice site 0.00002291●●●●●●
62. 32834578 c.530+7_530+9delAGA splice site 0.00002291●●●●●●
63. 31676104 c.8027+3A>G splice site 0.00002291●●●●●●
64. 32398623 c.4845+4A>T splice site 0.00002289●●●●●●
65. 31241156 c.9361+8T>C splice site 0.00002281●●●●●●
66. 31525568 c.8220C>T splice site 0.00001970●●●●●●
67. 31893493 c.6913-3C>T splice site 0.00001824●●●●●●
68. 31515068 c.8391-7T>A splice site 0.00001789●●●●●●
69. 33229391 c.31+8C>T splice site 0.00001542●●●●●●
70. 32584001 c.1813-3C>T splice site 0.00001444●●●●●●
71. 31196092 c.10224-5T>C splice site 0.00001406●●●●●●
72. 31496217 c.8937+6G>A splice site 0.00001389●●●●●●
73. 31496218 c.8937+5C>T splice site 0.00001386●●●●●●
74. 31152316 c.10922-5T>C splice site 0.00001330●●●●●●
75. 32328400 c.5923-7A>G splice site 0.00001313●●●●●●
76. 32328399 c.5923-6T>C splice site 0.00001312●●●●●●
77. 32328397 c.5923-4C>G splice site 0.00001293●●●●●●
78. 32404589 c.4519-7A>C splice site 0.00001291●●●●●●
79. 32613866 c.1602+8T>G splice site 0.00001276●●●●●●
80. 31144795 c.11015-5T>A splice site 0.00001265●●●●●●
81. 32715982 c.960+5G>A splice site 0.00001249●●●●●●
82. 32430034 c.4072-4T>A splice site 0.00001214●●●●●●
83. 32408302 c.4234-4A>G splice site 0.00001203●●●●●●
84. 31792070 c.7542+7dupG splice site 0.00001195●●●●●●
85. 32867945 c.94-8A>T splice site 0.00001188●●●●●●
86. 31497218 c.8550C>T p.A2850A splice site 0.00001183●●●●●●
87. 31191725 c.10263-4A>G splice site 0.00001171●●●●●●
88. 31514905 c.8547G>A splice site 0.00001163●●●●●●
89. 32459290 c.3921+7T>C splice site 0.00001159●●●●●●
90. 31838084 c.7309+8T>C splice site 0.00001158●●●●●●
91. 32632417 c.1482+3A>G splice site 0.00001158●●●●●●
92. 31191649 c.10328+7G>C splice site 0.00001156●●●●●●
93. 32717417 c.650-7C>T splice site 0.00001153●●●●●●
94. 32591761 c.1705-7C>T splice site 0.00001153●●●●●●
95. 32862897 c.264+3A>G splice site 0.00001153●●●●●●
96. 32717418 c.650-8G>T splice site 0.00001153●●●●●●
97. 32663273 c.961-4G>C splice site 0.00001151●●●●●●
98. 31838093 c.7308C>G splice site 0.00001151●●●●●●
99. 31496498 c.8669-7A>G splice site 0.00001150●●●●●●
100. 32472954 c.3433-5G>A splice site 0.00001149●●●●●●
101. 32466569 c.3786+4A>G splice site 0.00001149●●●●●●
102. 32466570 c.3786+3C>G splice site 0.00001149●●●●●●
103. 32482823 c.3163-7G>A splice site 0.00001148●●●●●●
104. 31496490 c.8670G>A splice site 0.00001148●●●●●●
105. 32482819 c.3163-3C>A splice site 0.00001146●●●●●●
106. 31676101 c.8027+6A>G splice site 0.00001146●●●●●●
107. 32583811 c.1992+8A>G splice site 0.00001145●●●●●●
108. 32398620 c.4845+7C>T splice site 0.00001145●●●●●●
109. 31676265 c.7873-4A>G splice site 0.00001145●●●●●●
110. 32717224 c.831+5A>C splice site 0.00001145●●●●●●
111. 31462590 c.9084+8C>T splice site 0.00001144●●●●●●
112. 32834755 c.360C>A splice site 0.00001144●●●●●●
113. 31986450 c.6614+6G>T splice site 0.00001144●●●●●●
114. 32407614 c.4518+4T>C splice site 0.00001143●●●●●●
115. 32841511 c.265-7T>A splice site 0.00001142●●●●●●
116. 31227610 c.9563+5G>A splice site 0.00001142●●●●●●
117. 32663070 c.1149+11A>G splice site 0.00001142●●●●●●
118. 31227611 c.9563+4C>T splice site 0.00001142●●●●●●
119. 31165386 c.10797+6_10797+8delGAG splice site 0.00001142●●●●●●
120. 32382691 c.5154+8A>G splice site 0.00001141●●●●●●
121. 32490278 c.2949+3C>A splice site 0.00001141●●●●●●
122. 32663075 c.1149+6C>G splice site 0.00001141●●●●●●
123. 32382690 c.5154+9T>C splice site 0.00001141●●●●●●
124. 31947706 c.6912+7C>T splice site 0.00001140●●●●●●
125. 32841407 c.357+5G>A splice site 0.00001140●●●●●●
126. 31747872 c.7543-7C>T splice site 0.00001140●●●●●●

* 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.