MYOZ2 non-truncating variants in ExAC

MYOZ2 gene summary
MYOZ2 variants in HCM, DCM

The table below lists the MYOZ2 non-truncating 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 frequency▼Populations*
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. 120107234 c.674C>T p.P225L missense 0.00004943●●●●●●
7. 120107143 c.583T>A p.F195I missense 0.00004141●●●●●●
8. 120072096 c.146A>G p.H49R missense 0.00004120●●●●●●
9. 120107249 c.689G>A p.R230Q missense 0.00003296●●●●●●
10. 120107266 c.706C>T p.P236S missense 0.00003295●●●●●●
11. 120107308 c.748A>C p.T250P missense 0.00002475●●●●●●
12. 120057691 c.11A>T p.H4L missense 0.00001697●●●●●●
13. 120057697 c.17C>G p.T6S missense 0.00001693●●●●●●
14. 120085533 c.544T>C p.Y182H missense 0.00001659●●●●●●
15. 120085392 c.403C>A p.P135T missense 0.00001650●●●●●●
16. 120072171 c.221A>G p.Q74R missense 0.00001649●●●●●●
17. 120085411 c.422C>T p.T141I missense 0.00001649●●●●●●
18. 120085436 c.447A>T p.Q149H missense 0.00001649●●●●●●
19. 120072172 c.222G>T p.Q74H missense 0.00001649●●●●●●
20. 120072132 c.182G>A p.R61H missense 0.00001648●●●●●●
21. 120107209 c.649C>A p.P217T missense 0.00001648●●●●●●
22. 120072108 c.158G>A p.R53H missense 0.00001648●●●●●●
23. 120072131 c.181C>T p.R61C missense 0.00001648●●●●●●
24. 120079185 c.255T>G p.I85M missense 0.00001648●●●●●●
25. 120057681 c.1A>C p.Met1? missense 0.00000854●●●●●●
26. 120057682 c.2T>C p.Met1? missense 0.00000854●●●●●●
27. 120057733 c.53T>G p.I18S missense 0.00000849●●●●●●
28. 120057733 c.53T>C p.I18T missense 0.00000849●●●●●●
29. 120057699 c.19A>G p.M7V missense 0.00000845●●●●●●
30. 120057719 c.39G>T p.Q13H missense 0.00000845●●●●●●
31. 120107126 c.566C>T p.A189V missense 0.00000832●●●●●●
32. 120107143 c.583T>C p.F195L missense 0.00000828●●●●●●
33. 120107333 c.773T>A p.V258E missense 0.00000828●●●●●●
34. 120085516 c.527A>C p.K176T missense 0.00000827●●●●●●
35. 120107313 c.753A>C p.E251D missense 0.00000826●●●●●●
36. 120085498 c.509T>A p.L170H missense 0.00000826●●●●●●
37. 120085375 c.386G>A p.G129E missense 0.00000826●●●●●●
38. 120107155 c.595T>A p.S199T missense 0.00000826●●●●●●
39. 120107311 c.751G>A p.E251K missense 0.00000826●●●●●●
40. 120085391 c.402T>G p.I134M missense 0.00000825●●●●●●
41. 120072177 c.227A>G p.Q76R missense 0.00000825●●●●●●
42. 120085392 c.403C>T p.P135S missense 0.00000825●●●●●●
43. 120085417 c.428C>T p.A143V missense 0.00000825●●●●●●
44. 120072041 c.91G>C p.D31H missense 0.00000825●●●●●●
45. 120072195 c.245A>G p.N82S missense 0.00000825●●●●●●
46. 120107309 c.749C>T p.T250I missense 0.00000825●●●●●●
47. 120085408 c.419A>G p.N140S missense 0.00000825●●●●●●
48. 120085428 c.439T>C p.Y147H missense 0.00000825●●●●●●
49. 120107296 c.736A>G p.I246V missense 0.00000825●●●●●●
50. 120085479 c.490G>A p.E164K missense 0.00000825●●●●●●
51. 120085381 c.392T>A p.L131Q missense 0.00000825●●●●●●
52. 120085411 c.422C>A p.T141N missense 0.00000825●●●●●●
53. 120107305 c.745A>G p.T249A missense 0.00000825●●●●●●
54. 120079293 c.363C>A p.D121E missense 0.00000824●●●●●●
55. 120079205 c.275T>C p.V92A missense 0.00000824●●●●●●
56. 120079186 c.256G>A p.A86T missense 0.00000824●●●●●●
57. 120072107 c.157C>G p.R53G missense 0.00000824●●●●●●
58. 120079193 c.263A>G p.Q88R missense 0.00000824●●●●●●
59. 120079207 c.277G>A p.D93N missense 0.00000824●●●●●●
60. 120072134 c.184C>A p.Q62K missense 0.00000824●●●●●●
61. 120107270 c.710A>G p.K237R missense 0.00000824●●●●●●
62. 120072056 c.106G>C p.V36L missense 0.00000824●●●●●●
63. 120079222 c.292G>C p.E98Q missense 0.00000824●●●●●●
64. 120072131 c.181C>G p.R61G missense 0.00000824●●●●●●
65. 120072148 c.198C>A p.D66E missense 0.00000824●●●●●●
66. 120079274 c.344G>A p.R115Q missense 0.00000824●●●●●●
67. 120079201 c.271A>G p.K91E missense 0.00000824●●●●●●
68. 120072107 c.157C>T p.R53C missense 0.00000824●●●●●●
69. 120072083 c.133G>A p.E45K missense 0.00000824●●●●●●
70. 120107264 c.704C>A p.T235N missense 0.00000824●●●●●●
71. 120107189 c.629A>G p.E210G missense 0.00000824●●●●●●
72. 120079240 c.310G>A p.A104T missense 0.00000824●●●●●●
73. 120085453 c.464C>T p.A155V 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.