MYOZ2 protein-altering variants in ExAC


The table below lists the MYOZ2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 120079241 c.311C>T p.A104V missense 0.00009063
2. 120085468 c.479C>T p.P160L missense 0.00008245
3. 120079243 c.313C>T p.P105S missense 0.00006592
4. 120085512 c.523G>A p.G175R missense 0.00004959
5. 120079232 c.302C>T p.S101L missense 0.00004944
6. 120079273 c.343C>T p.R115X nonsense 0.00004944
7. 120107234 c.674C>T p.P225L missense 0.00004943
8. 120107143 c.583T>A p.F195I missense 0.00004141
9. 120072096 c.146A>G p.H49R missense 0.00004120
10. 120107249 c.689G>A p.R230Q missense 0.00003296
11. 120107266 c.706C>T p.P236S missense 0.00003295
12. 120107308 c.748A>C p.T250P missense 0.00002475
13. 120057691 c.11A>T p.H4L missense 0.00001697
14. 120057697 c.17C>G p.T6S missense 0.00001693
15. 120085533 c.544T>C p.Y182H missense 0.00001659
16. 120085392 c.403C>A p.P135T missense 0.00001650
17. 120072172 c.222G>T p.Q74H missense 0.00001649
18. 120085436 c.447A>T p.Q149H missense 0.00001649
19. 120072171 c.221A>G p.Q74R missense 0.00001649
20. 120085411 c.422C>T p.T141I missense 0.00001649
21. 120072131 c.181C>T p.R61C missense 0.00001648
22. 120079232 c.302C>A p.S101X nonsense 0.00001648
23. 120072132 c.182G>A p.R61H missense 0.00001648
24. 120072108 c.158G>A p.R53H missense 0.00001648
25. 120107209 c.649C>A p.P217T missense 0.00001648
26. 120079185 c.255T>G p.I85M missense 0.00001648
27. 120057682 c.2T>C p.Met1? missense 0.00000854
28. 120057681 c.1A>C p.Met1? missense 0.00000854
29. 120057733 c.53T>C p.I18T missense 0.00000849
30. 120057733 c.53T>G p.I18S missense 0.00000849
31. 120057699 c.19A>G p.M7V missense 0.00000845
32. 120057719 c.39G>T p.Q13H missense 0.00000845
33. 120085550 c.560+1G>T essential splice site 0.00000833
34. 120107126 c.566C>T p.A189V missense 0.00000832
35. 120107333 c.773T>A p.V258E missense 0.00000828
36. 120107143 c.583T>C p.F195L missense 0.00000828
37. 120085516 c.527A>C p.K176T missense 0.00000827
38. 120107155 c.595T>A p.S199T missense 0.00000826
39. 120085375 c.386G>A p.G129E missense 0.00000826
40. 120107311 c.751G>A p.E251K missense 0.00000826
41. 120107313 c.753A>C p.E251D missense 0.00000826
42. 120085498 c.509T>A p.L170H missense 0.00000826
43. 120107309 c.749C>T p.T250I missense 0.00000825
44. 120072197 c.246+1G>A essential splice site 0.00000825
45. 120107296 c.736A>G p.I246V missense 0.00000825
46. 120085417 c.428C>T p.A143V missense 0.00000825
47. 120072177 c.227A>G p.Q76R missense 0.00000825
48. 120085408 c.419A>G p.N140S missense 0.00000825
49. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825
50. 120107305 c.745A>G p.T249A missense 0.00000825
51. 120085479 c.490G>A p.E164K missense 0.00000825
52. 120085381 c.392T>A p.L131Q missense 0.00000825
53. 120085392 c.403C>T p.P135S missense 0.00000825
54. 120072195 c.245A>G p.N82S missense 0.00000825
55. 120085411 c.422C>A p.T141N missense 0.00000825
56. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825
57. 120072041 c.91G>C p.D31H missense 0.00000825
58. 120085391 c.402T>G p.I134M missense 0.00000825
59. 120085428 c.439T>C p.Y147H missense 0.00000825
60. 120079293 c.363C>A p.D121E missense 0.00000824
61. 120079205 c.275T>C p.V92A missense 0.00000824
62. 120072107 c.157C>T p.R53C missense 0.00000824
63. 120079186 c.256G>A p.A86T missense 0.00000824
64. 120085453 c.464C>T p.A155V missense 0.00000824
65. 120072083 c.133G>A p.E45K missense 0.00000824
66. 120079207 c.277G>A p.D93N missense 0.00000824
67. 120107264 c.704C>A p.T235N missense 0.00000824
68. 120072107 c.157C>G p.R53G missense 0.00000824
69. 120079193 c.263A>G p.Q88R missense 0.00000824
70. 120107189 c.629A>G p.E210G missense 0.00000824
71. 120072134 c.184C>A p.Q62K missense 0.00000824
72. 120079222 c.292G>C p.E98Q missense 0.00000824
73. 120079274 c.344G>A p.R115Q missense 0.00000824
74. 120079201 c.271A>G p.K91E missense 0.00000824
75. 120072148 c.198C>A p.D66E missense 0.00000824
76. 120072056 c.106G>C p.V36L missense 0.00000824
77. 120079240 c.310G>A p.A104T missense 0.00000824
78. 120107270 c.710A>G p.K237R missense 0.00000824
79. 120072131 c.181C>G p.R61G 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.