MYBPC3 splice variants in ExAC


The table below lists the MYBPC3 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 frequencyPopulations*
1. 0 c.506-12delC splice site 0.68791751
2. 47357416 c.2737+12C>T splice site 0.10085737
3. 47363535 c.1790+7G>A splice site 0.00602362
4. 47358943 c.2601C>T p.I867I splice site 0.00462683
5. 47360235 c.2149-5C>T splice site 0.00127947
6. 47368195 c.909C>T p.D303D splice site 0.00061428
7. 47368170 c.926+8C>T splice site 0.00034935
8. 47368587 c.906-7G>T splice site 0.00027619
9. 47371314 c.654+11C>T splice site 0.00022461
10. 47368591 c.906-11_906-9delCTG splice site 0.00010750
11. 47371668 c.407-5C>T splice site 0.00009541
12. 47355104 c.3190+4C>T splice site 0.00009315
13. 47355301 c.2997C>T p.G999G splice site 0.00008807
14. 47372054 c.405A>G splice site 0.00008359
15. 47364805 c.1226+6T>C splice site 0.00006195
16. 47355308 c.2995-5C>G splice site 0.00006070
17. 47360238 c.2149-8C>G splice site 0.00005510
18. 47369397 c.821+11A>T splice site 0.00004415
19. 47372048 c.406+5G>C splice site 0.00004342
20. 47360235 c.2149-5C>G splice site 0.00004337
21. 47371566 c.504G>A splice site 0.00004213
22. 47360063 c.2308+8C>T splice site 0.00004153
23. 47369040 c.852-10C>G splice site 0.00004034
24. 47369236 c.822-5C>T splice site 0.00003631
25. 47369234 c.822-3C>T splice site 0.00003619
26. 47369231 c.822G>A splice site 0.00003579
27. 47364300 c.1458-5G>A splice site 0.00003328
28. 47354740 c.3330+5G>C splice site 0.00003052
29. 47354888 c.3191-4G>A splice site 0.00003027
30. 47362546 c.1927+8T>C splice site 0.00002892
31. 47363715 c.1625-8C>G splice site 0.00002574
32. 47362795 c.1791G>C splice site 0.00002522
33. 47360072 c.2307C>T splice site 0.00002489
34. 47360869 c.2148+6_2148+9delTGAG splice site 0.00002484
35. 47353398 c.*24C>A splice site 0.00002350
36. 47360238 c.2149-8C>T splice site 0.00002204
37. 47361197 c.2067+5T>G splice site 0.00002193
38. 47367924 c.927-3C>T splice site 0.00002139
39. 47359235 c.2413+6T>C splice site 0.00002112
40. 47359234 c.2413+7G>A splice site 0.00002084
41. 47365183 c.1091-8G>A splice site 0.00001971
42. 47364701 c.1227-5C>A splice site 0.00001970
43. 47368180 c.924G>A splice site 0.00001842
44. 47364491 c.1352-5G>C splice site 0.00001798
45. 47368588 c.906-8T>C splice site 0.00001792
46. 0 c.906-12_906-11insCTG splice site 0.00001792
47. 47355103 c.3190+5G>A splice site 0.00001696
48. 47364302 c.1458-7C>T splice site 0.00001667
49. 47374165 c.25+9A>G splice site 0.00001663
50. 47357567 c.2603-5C>A splice site 0.00001500
51. 47357570 c.2603-8C>T splice site 0.00001495
52. 47354362 c.3490+3_3490+7delGCTGT splice site 0.00001488
53. 47369966 c.772+9G>T splice site 0.00001483
54. 47354359 c.3490+6G>A splice site 0.00001476
55. 47354362 c.3490+3G>A splice site 0.00001461
56. 47364125 c.1624+4A>T splice site 0.00001347
57. 47373055 c.27C>A splice site 0.00001265
58. 47364130 c.1623G>A splice site 0.00001221
59. 47354252 c.3492C>T splice site 0.00001211
60. 0 c.*26+8C>T splice site 0.00001197
61. 47360233 c.2149-3C>T splice site 0.00001091
62. 47356594 c.2904G>C splice site 0.00001089
63. 47353431 c.3816G>A splice site 0.00001086
64. 47353440 c.3815-8T>C splice site 0.00001075
65. 47364818 c.1224-5T>C splice site 0.00001040
66. 47364709 c.1227-13G>A splice site 0.00000998
67. 47364700 c.1227-4C>G splice site 0.00000985
68. 47371315 c.654+10C>T splice site 0.00000931
69. 47371317 c.654+8C>A splice site 0.00000929
70. 47371321 c.654+4G>A splice site 0.00000924
71. 47368174 c.926+4A>G splice site 0.00000919
72. 47364491 c.1352-5G>A splice site 0.00000899
73. 47364568 c.1351+4G>A splice site 0.00000880
74. 47356766 c.2738-6C>A splice site 0.00000867
75. 47356764 c.2738-4C>A splice site 0.00000867
76. 47353624 c.3813A>G splice site 0.00000859
77. 47363714 c.1625-7C>A splice site 0.00000856
78. 47355105 c.3190+3G>A splice site 0.00000845
79. 47367750 c.1090+8C>T splice site 0.00000839
80. 47353814 c.3628-5T>C splice site 0.00000832
81. 47364299 c.1458-4C>T splice site 0.00000832
82. 47353813 c.3628-4A>G splice site 0.00000832
83. 47361347 c.1928-6C>T splice site 0.00000831
84. 47360068 c.2308+3G>A splice site 0.00000830
85. 47360959 c.2068-4C>G splice site 0.00000829

* 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.