MIB1 truncating variants in ExAC

MIB1 gene summary
MIB1 variants in

The table below lists the MIB1 truncating 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. 19378063 c.1111C>T p.R371X nonsense 0.00010732●●●●●●
2. 19423155 c.2026C>T p.R676X nonsense 0.00006839●●●●●●
3. 19437141 c.2716C>T p.R906X nonsense 0.00006600●●●●●●
4. 19395673 c.1576C>T p.Arg526Ter nonsense 0.00006593●●●●●●
5. 19371465 c.1039C>T p.R347X nonsense 0.00004947●●●●●●
6. 19395685 c.1588C>T p.R530X nonsense 0.00004944●●●●●●
7. 19371378 c.952C>T p.R318X nonsense 0.00004132●●●●●●
8. 19433164 c.2650_2651delAT p.Met884ValfsTer4 frameshift 0.00004119●●●●●●
9. 19345879 c.376C>T p.R126X nonsense 0.00004119●●●●●●
10. 19426998 c.2305C>T p.R769X nonsense 0.00003296●●●●●●
11. 19395649 c.1552C>T p.R518X nonsense 0.00003296●●●●●●
12. 19345792 c.289C>T p.R97X nonsense 0.00003295●●●●●●
13. 19348657 c.475C>T p.R159X nonsense 0.00003267●●●●●●
14. 19378044 c.1093-1G>A essential splice site 0.00002480●●●●●●
15. 19424052 c.2050-1G>A essential splice site 0.00002473●●●●●●
16. 19444607 c.3001C>T p.Arg1001Ter nonsense 0.00002471●●●●●●
17. 19423091 c.1963-1G>C essential splice site 0.00001721●●●●●●
18. 19399608 c.1829+1G>T essential splice site 0.00001668●●●●●●
19. 19371500 c.1074G>A p.W358X nonsense 0.00001653●●●●●●
20. 19437126 c.2701C>T p.R901X nonsense 0.00001652●●●●●●
21. 19395751 c.1654delT p.F552Lfs*28 frameshift 0.00001650●●●●●●
22. 19378128 c.1176C>A p.Y392X nonsense 0.00001650●●●●●●
23. 19321763 c.219delC p.Ser73ArgfsTer48 frameshift 0.00001451●●●●●●
24. 19321731 c.187_188insC p.G64Rfs*15 frameshift 0.00001148●●●●●●
25. 19321671 c.127G>T p.E43X nonsense 0.00001022●●●●●●
26. 19348693 c.511G>T p.G171X nonsense 0.00000941●●●●●●
27. 19383977 c.1479+2T>C essential splice site 0.00000871●●●●●●
28. 19383977 c.1479+2T>G essential splice site 0.00000871●●●●●●
29. 19423168 c.2039delA p.Gln680ArgfsTer28 frameshift 0.00000868●●●●●●
30. 19383866 c.1372-2A>G essential splice site 0.00000865●●●●●●
31. 19423091 c.1963-1G>A essential splice site 0.00000860●●●●●●
32. 19371334 c.909-1G>C essential splice site 0.00000851●●●●●●
33. 19383896 c.1400_1401insTA p.Met468IlefsTer14 frameshift 0.00000837●●●●●●
34. 19437093 c.2668_2669delTG p.Ala891Ter frameshift 0.00000837●●●●●●
35. 19379937 c.1371+2T>A essential splice site 0.00000837●●●●●●
36. 19424196 c.2193G>A p.W731X nonsense 0.00000835●●●●●●
37. 19437206 c.2779+2T>C essential splice site 0.00000834●●●●●●
38. 19399608 c.1829+1G>C essential splice site 0.00000834●●●●●●
39. 19371519 c.1092+1G>A essential splice site 0.00000833●●●●●●
40. 19437205 c.2779+1G>A essential splice site 0.00000833●●●●●●
41. 19427075 c.2382delG p.Glu795LysfsTer14 frameshift 0.00000833●●●●●●
42. 19371519 c.1092+1G>C essential splice site 0.00000833●●●●●●
43. 19418337 c.1841delT p.L615Yfs*31 frameshift 0.00000832●●●●●●
44. 19379811 c.1247C>G p.S416X nonsense 0.00000831●●●●●●
45. 19418340 c.1844T>G p.L615X nonsense 0.00000830●●●●●●
46. 19429329 c.2566C>T p.Q856X nonsense 0.00000830●●●●●●
47. 19418459 c.1962+1G>A essential splice site 0.00000829●●●●●●
48. 19429326 c.2563G>T p.E855X nonsense 0.00000829●●●●●●
49. 19379854 c.1290delC p.Leu431SerfsTer5 frameshift 0.00000828●●●●●●
50. 19437111 c.2686A>T p.K896X nonsense 0.00000828●●●●●●
51. 19378044 c.1093-1G>C essential splice site 0.00000827●●●●●●
52. 19418448 c.1952T>A p.L651X nonsense 0.00000826●●●●●●
53. 19378180 c.1228_1229insC p.Ser411IlefsTer3 frameshift 0.00000826●●●●●●
54. 19424165 c.2162delT p.Met721SerfsTer18 frameshift 0.00000825●●●●●●
55. 19395743 c.1646T>G p.L549X nonsense 0.00000825●●●●●●
56. 19353604 c.551G>A p.W184X nonsense 0.00000825●●●●●●
57. 19353615 c.562_563insG p.Ser188ArgfsTer4 frameshift 0.00000825●●●●●●
58. 19345734 c.231_232insA p.Ile78AsnfsTer4 frameshift 0.00000825●●●●●●
59. 19353605 c.552G>A p.W184X nonsense 0.00000825●●●●●●
60. 19371396 c.970C>T p.Q324X nonsense 0.00000825●●●●●●
61. 19353690 c.636+1G>A essential splice site 0.00000825●●●●●●
62. 19438545 c.2818delA p.Asn940IlefsTer28 frameshift 0.00000825●●●●●●
63. 19437139 c.2714delA p.Glu905AspfsTer63 frameshift 0.00000825●●●●●●
64. 19418380 c.1884_1885insA p.Asp630ArgfsTer2 frameshift 0.00000825●●●●●●
65. 19358063 c.637-1G>T essential splice site 0.00000824●●●●●●
66. 19359545 c.807delA p.Gly270AspfsTer10 frameshift 0.00000824●●●●●●
67. 19345806 c.303_304delAG p.Glu102ValfsTer5 frameshift 0.00000824●●●●●●
68. 19395643 c.1546delC p.Leu516TyrfsTer8 frameshift 0.00000824●●●●●●
69. 19359641 c.903_904insA p.Asn302LysfsTer2 frameshift 0.00000824●●●●●●
70. 19444577 c.2971G>T p.E991X nonsense 0.00000824●●●●●●
71. 19359572 c.834_835delTT p.Leu279AsnfsTer10 frameshift 0.00000824●●●●●●
72. 19345817 c.314_315delAT p.Asn105IlefsTer2 frameshift 0.00000824●●●●●●
73. 19395741 c.1644delT p.Leu549TyrfsTer23 frameshift 0.00000824●●●●●●
74. 19371437 c.1011delT p.Val339TyrfsTer28 frameshift 0.00000824●●●●●●
75. 19359521 c.783_784delAC p.Gln262ValfsTer11 frameshift 0.00000824●●●●●●
76. 19444582 c.2976T>A p.C992X nonsense 0.00000824●●●●●●
77. 19424052 c.2050-1G>C essential splice site 0.00000824●●●●●●
78. 19395637 c.1540G>T p.E514X nonsense 0.00000824●●●●●●
79. 19359601 c.863delT p.Ile288MetfsTer8 frameshift 0.00000824●●●●●●
80. 19345859 c.356_357insT p.Leu120PhefsTer14 frameshift 0.00000824●●●●●●
81. 19429300 c.2537_2538insT p.Val847CysfsTer8 frameshift 0.00000824●●●●●●
82. 19424092 c.2089A>T p.K697X nonsense 0.00000824●●●●●●
83. 19359531 c.793C>T p.Q265X nonsense 0.00000824●●●●●●
84. 19359541 c.803_804delAT p.His268ArgfsTer5 frameshift 0.00000824●●●●●●
85. 19358062 c.637-2A>G essential splice site 0.00000824●●●●●●
86. 19444485 c.2881-2A>G essential splice site 0.00000824●●●●●●
87. 19345785 c.282_283delTG p.Ile94MetfsTer13 frameshift 0.00000824●●●●●●
88. 19444591 c.2985T>A p.C995X nonsense 0.00000824●●●●●●
89. 19424162 c.2159_2160delAT p.Met721AlafsTer44 frameshift 0.00000824●●●●●●
90. 19359624 c.886delG p.Val296TyrfsTer71 frameshift 0.00000824●●●●●●
91. 19345906 c.401+2T>C essential splice site 0.00000824●●●●●●
92. 19433114 c.2600_2601insTACC p.Val868ThrfsTer5 frameshift 0.00000824●●●●●●
93. 19359596 c.858T>A p.C286X nonsense 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.