MYOZ2 protein-altering variants in ExAC

MYOZ2 gene summary
MYOZ2 variants in HCM, DCM

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 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. 120079273 c.343C>T p.R115X nonsense 0.00004944●●●●●●
6. 120079232 c.302C>T p.S101L missense 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. 120072171 c.221A>G p.Q74R missense 0.00001649●●●●●●
19. 120085411 c.422C>T p.T141I missense 0.00001649●●●●●●
20. 120085436 c.447A>T p.Q149H missense 0.00001649●●●●●●
21. 120079185 c.255T>G p.I85M missense 0.00001648●●●●●●
22. 120072132 c.182G>A p.R61H missense 0.00001648●●●●●●
23. 120107209 c.649C>A p.P217T missense 0.00001648●●●●●●
24. 120079232 c.302C>A p.S101X nonsense 0.00001648●●●●●●
25. 120072108 c.158G>A p.R53H missense 0.00001648●●●●●●
26. 120072131 c.181C>T p.R61C 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. 120107143 c.583T>C p.F195L missense 0.00000828●●●●●●
36. 120107333 c.773T>A p.V258E missense 0.00000828●●●●●●
37. 120085516 c.527A>C p.K176T missense 0.00000827●●●●●●
38. 120107311 c.751G>A p.E251K missense 0.00000826●●●●●●
39. 120085498 c.509T>A p.L170H missense 0.00000826●●●●●●
40. 120107313 c.753A>C p.E251D missense 0.00000826●●●●●●
41. 120085375 c.386G>A p.G129E missense 0.00000826●●●●●●
42. 120107155 c.595T>A p.S199T missense 0.00000826●●●●●●
43. 120072197 c.246+1G>A essential splice site 0.00000825●●●●●●
44. 120085411 c.422C>A p.T141N missense 0.00000825●●●●●●
45. 120085479 c.490G>A p.E164K missense 0.00000825●●●●●●
46. 120107305 c.745A>G p.T249A missense 0.00000825●●●●●●
47. 120085391 c.402T>G p.I134M missense 0.00000825●●●●●●
48. 120085392 c.403C>T p.P135S missense 0.00000825●●●●●●
49. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825●●●●●●
50. 120072041 c.91G>C p.D31H missense 0.00000825●●●●●●
51. 120072177 c.227A>G p.Q76R missense 0.00000825●●●●●●
52. 120085428 c.439T>C p.Y147H missense 0.00000825●●●●●●
53. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825●●●●●●
54. 120072195 c.245A>G p.N82S missense 0.00000825●●●●●●
55. 120107309 c.749C>T p.T250I missense 0.00000825●●●●●●
56. 120085417 c.428C>T p.A143V missense 0.00000825●●●●●●
57. 120085408 c.419A>G p.N140S missense 0.00000825●●●●●●
58. 120107296 c.736A>G p.I246V missense 0.00000825●●●●●●
59. 120085381 c.392T>A p.L131Q missense 0.00000825●●●●●●
60. 120079201 c.271A>G p.K91E missense 0.00000824●●●●●●
61. 120072131 c.181C>G p.R61G missense 0.00000824●●●●●●
62. 120072107 c.157C>T p.R53C missense 0.00000824●●●●●●
63. 120107264 c.704C>A p.T235N missense 0.00000824●●●●●●
64. 120107189 c.629A>G p.E210G missense 0.00000824●●●●●●
65. 120072083 c.133G>A p.E45K missense 0.00000824●●●●●●
66. 120079274 c.344G>A p.R115Q missense 0.00000824●●●●●●
67. 120079240 c.310G>A p.A104T missense 0.00000824●●●●●●
68. 120079205 c.275T>C p.V92A missense 0.00000824●●●●●●
69. 120072107 c.157C>G p.R53G missense 0.00000824●●●●●●
70. 120079293 c.363C>A p.D121E missense 0.00000824●●●●●●
71. 120079186 c.256G>A p.A86T missense 0.00000824●●●●●●
72. 120079207 c.277G>A p.D93N missense 0.00000824●●●●●●
73. 120072134 c.184C>A p.Q62K missense 0.00000824●●●●●●
74. 120107270 c.710A>G p.K237R missense 0.00000824●●●●●●
75. 120079193 c.263A>G p.Q88R missense 0.00000824●●●●●●
76. 120072056 c.106G>C p.V36L missense 0.00000824●●●●●●
77. 120085453 c.464C>T p.A155V missense 0.00000824●●●●●●
78. 120079222 c.292G>C p.E98Q missense 0.00000824●●●●●●
79. 120072148 c.198C>A p.D66E 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.