MBNL2 variants in ExAC

MBNL2 gene summary
MBNL2 variants in

The table below lists the MBNL2 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. 97995474 c.540+4C>T splice site 0.00148769●●●●●●
2. 97986540 c.185C>T p.S62L missense 0.00028609●●●●●●
3. 97928502 c.13G>A p.V5I missense 0.00014047●●●●●●
4. 97999124 c.607G>A p.A203T missense 0.00010724●●●●●●
5. 97999330 c.804+9G>A splice site 0.00006684●●●●●●
6. 97995385 c.455C>T p.T152M missense 0.00005767●●●●●●
7. 98018739 c.1021G>A p.A341T missense 0.00004949●●●●●●
8. 97928608 c.119C>G p.P40R missense 0.00004119●●●●●●
9. 98009803 c.872G>A p.S291N missense 0.00004118●●●●●●
10. 97995433 c.503C>T p.T168I missense 0.00003316●●●●●●
11. 98018733 c.1015A>G p.T339A missense 0.00003311●●●●●●
12. 97928511 c.22G>A p.V8I missense 0.00003302●●●●●●
13. 97995366 c.436A>G p.T146A missense 0.00003295●●●●●●
14. 98009754 c.823C>T p.L275F missense 0.00003295●●●●●●
15. 97999310 c.793G>T p.A265S missense 0.00002625●●●●●●
16. 97995424 c.494C>T p.P165L missense 0.00002480●●●●●●
17. 97986641 c.286A>G p.M96V missense 0.00002478●●●●●●
18. 97995273 c.343A>T p.T115S missense 0.00002477●●●●●●
19. 97986585 c.230C>T p.T77I missense 0.00002476●●●●●●
20. 97995292 c.362C>T p.A121V missense 0.00002472●●●●●●
21. 98009871 c.940G>A p.A314T missense 0.00002472●●●●●●
22. 97928622 c.133G>A p.V45I missense 0.00002471●●●●●●
23. 97995367 c.437C>T p.T146M missense 0.00002471●●●●●●
24. 97995315 c.385A>G p.S129G missense 0.00002471●●●●●●
25. 97999304 c.787G>C p.A263P missense 0.00002469●●●●●●
26. 97986533 c.178C>T p.R60C missense 0.00001703●●●●●●
27. 97986534 c.179G>A p.R60H missense 0.00001695●●●●●●
28. 97999054 c.541-4T>C splice site 0.00001690●●●●●●
29. 97999091 c.574C>T p.R192W missense 0.00001655●●●●●●
30. 98018730 c.1012G>T p.A338S missense 0.00001654●●●●●●
31. 97999103 c.586G>A p.D196N missense 0.00001652●●●●●●
32. 97999103 c.586G>C p.D196H missense 0.00001652●●●●●●
33. 97999110 c.593G>A p.R198H missense 0.00001651●●●●●●
34. 97928511 c.22G>C p.V8L missense 0.00001651●●●●●●
35. 97995412 c.482C>T p.P161L missense 0.00001650●●●●●●
36. 98018784 c.1066G>A p.A356T missense 0.00001649●●●●●●
37. 97928587 c.98A>G p.E33G missense 0.00001648●●●●●●
38. 97999281 c.764C>T p.A255V missense 0.00000948●●●●●●
39. 97999269 c.752C>T p.A251V missense 0.00000885●●●●●●
40. 97986701 c.339+7A>G splice site 0.00000861●●●●●●
41. 97999050 c.541-8T>C splice site 0.00000849●●●●●●
42. 97995463 c.533A>G p.K178R missense 0.00000847●●●●●●
43. 97986659 c.304C>A p.Q102K missense 0.00000832●●●●●●
44. 97999077 c.560G>A p.R187Q missense 0.00000830●●●●●●
45. 97995432 c.502A>T p.T168S missense 0.00000829●●●●●●
46. 97999187 c.670G>C p.G224R missense 0.00000826●●●●●●
47. 97995273 c.343A>G p.T115A missense 0.00000826●●●●●●
48. 97928508 c.19C>T p.P7S missense 0.00000826●●●●●●
49. 97995271 c.341C>T p.P114L missense 0.00000826●●●●●●
50. 97995402 c.472G>A p.G158R missense 0.00000825●●●●●●
51. 98018743 c.1025C>G p.T342S missense 0.00000825●●●●●●
52. 98018808 c.1089+1G>A essential splice site 0.00000825●●●●●●
53. 97999143 c.626A>G p.D209G missense 0.00000825●●●●●●
54. 97986612 c.257A>G p.N86S missense 0.00000825●●●●●●
55. 97999172 c.655A>G p.M219V missense 0.00000825●●●●●●
56. 97986614 c.259T>A p.L87M missense 0.00000825●●●●●●
57. 97999160 c.643G>A p.V215I missense 0.00000825●●●●●●
58. 98018746 c.1028_1029delTC p.Ser344CysfsTer62 frameshift 0.00000824●●●●●●
59. 98009868 c.937C>T p.H313Y missense 0.00000824●●●●●●
60. 98009794 c.863A>G p.N288S missense 0.00000824●●●●●●
61. 97995340 c.410T>C p.V137A missense 0.00000824●●●●●●
62. 98017405 c.974T>G p.M325R missense 0.00000824●●●●●●
63. 98009739 c.808T>C p.F270L missense 0.00000824●●●●●●
64. 97995307 c.377C>T p.T126M missense 0.00000824●●●●●●
65. 97928593 c.104A>G p.K35R missense 0.00000824●●●●●●
66. 97928637 c.148G>A p.V50I missense 0.00000824●●●●●●
67. 98009821 c.890G>A p.S297N missense 0.00000824●●●●●●
68. 97995358 c.428T>G p.L143W missense 0.00000824●●●●●●
69. 98017433 c.994+8T>G splice site 0.00000824●●●●●●
70. 98017420 c.989G>C p.S330T missense 0.00000824●●●●●●
71. 98009764 c.833T>C p.L278S missense 0.00000824●●●●●●
72. 97995309 c.379G>A p.A127T missense 0.00000824●●●●●●
73. 98009853 c.922G>A p.A308T missense 0.00000824●●●●●●
74. 98009874 c.943G>A p.A315T missense 0.00000824●●●●●●
75. 97995373 c.443T>C p.I148T missense 0.00000824●●●●●●
76. 98018761 c.1043C>T p.T348I missense 0.00000824●●●●●●
77. 98009767 c.836C>A p.P279Q missense 0.00000824●●●●●●
78. 97928620 c.131A>G p.Q44R missense 0.00000824●●●●●●
79. 98017404 c.973A>G p.M325V missense 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.