MYOZ2 variants in ExAC

MYOZ2 gene summary
MYOZ2 variants in HCM, DCM

The table below lists the MYOZ2 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. 120057709 c.29A>C p.Q10P missense 0.00269851●●●●●●
2. 120107298 c.738A>G p.I246M missense 0.00189669●●●●●●
3. 120107248 c.688C>T p.R230W missense 0.00031308●●●●●●
4. 120072195 c.245A>C p.N82T missense 0.00020634●●●●●●
5. 120079315 c.376+9T>A splice site 0.00017309●●●●●●
6. 120085477 c.488T>C p.L163S missense 0.00014845●●●●●●
7. 120079241 c.311C>T p.A104V missense 0.00009063●●●●●●
8. 120085468 c.479C>T p.P160L missense 0.00008245●●●●●●
9. 120057755 c.75T>C p.N25N splice site 0.00006920●●●●●●
10. 120079243 c.313C>T p.P105S missense 0.00006592●●●●●●
11. 120085512 c.523G>A p.G175R missense 0.00004959●●●●●●
12. 120079232 c.302C>T p.S101L missense 0.00004944●●●●●●
13. 120079273 c.343C>T p.R115X nonsense 0.00004944●●●●●●
14. 120107234 c.674C>T p.P225L missense 0.00004943●●●●●●
15. 120107143 c.583T>A p.F195I missense 0.00004141●●●●●●
16. 120072096 c.146A>G p.H49R missense 0.00004120●●●●●●
17. 120107249 c.689G>A p.R230Q missense 0.00003296●●●●●●
18. 120107266 c.706C>T p.P236S missense 0.00003295●●●●●●
19. 120107308 c.748A>C p.T250P missense 0.00002475●●●●●●
20. 120057764 c.76+8T>C splice site 0.00001755●●●●●●
21. 120057691 c.11A>T p.H4L missense 0.00001697●●●●●●
22. 120057697 c.17C>G p.T6S missense 0.00001693●●●●●●
23. 120085533 c.544T>C p.Y182H missense 0.00001659●●●●●●
24. 120085392 c.403C>A p.P135T missense 0.00001650●●●●●●
25. 120072171 c.221A>G p.Q74R missense 0.00001649●●●●●●
26. 120072172 c.222G>T p.Q74H missense 0.00001649●●●●●●
27. 120085411 c.422C>T p.T141I missense 0.00001649●●●●●●
28. 120085436 c.447A>T p.Q149H missense 0.00001649●●●●●●
29. 120072108 c.158G>A p.R53H missense 0.00001648●●●●●●
30. 120079185 c.255T>G p.I85M missense 0.00001648●●●●●●
31. 120079232 c.302C>A p.S101X nonsense 0.00001648●●●●●●
32. 120072132 c.182G>A p.R61H missense 0.00001648●●●●●●
33. 120107209 c.649C>A p.P217T missense 0.00001648●●●●●●
34. 120072131 c.181C>T p.R61C missense 0.00001648●●●●●●
35. 120057681 c.1A>C p.Met1? missense 0.00000854●●●●●●
36. 120057682 c.2T>C p.Met1? missense 0.00000854●●●●●●
37. 120057733 c.53T>C p.I18T missense 0.00000849●●●●●●
38. 120057733 c.53T>G p.I18S missense 0.00000849●●●●●●
39. 120057699 c.19A>G p.M7V missense 0.00000845●●●●●●
40. 120057719 c.39G>T p.Q13H missense 0.00000845●●●●●●
41. 120107115 c.561-6C>T splice site 0.00000839●●●●●●
42. 120107117 c.561-4A>C splice site 0.00000837●●●●●●
43. 120085550 c.560+1G>T essential splice site 0.00000833●●●●●●
44. 120107126 c.566C>T p.A189V missense 0.00000832●●●●●●
45. 120107333 c.773T>A p.V258E missense 0.00000828●●●●●●
46. 120107143 c.583T>C p.F195L missense 0.00000828●●●●●●
47. 120085516 c.527A>C p.K176T missense 0.00000827●●●●●●
48. 120085361 c.377-5C>T splice site 0.00000827●●●●●●
49. 120085375 c.386G>A p.G129E missense 0.00000826●●●●●●
50. 120107155 c.595T>A p.S199T missense 0.00000826●●●●●●
51. 120107311 c.751G>A p.E251K missense 0.00000826●●●●●●
52. 120107313 c.753A>C p.E251D missense 0.00000826●●●●●●
53. 120085498 c.509T>A p.L170H missense 0.00000826●●●●●●
54. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825●●●●●●
55. 120085417 c.428C>T p.A143V missense 0.00000825●●●●●●
56. 120072195 c.245A>G p.N82S missense 0.00000825●●●●●●
57. 120107309 c.749C>T p.T250I missense 0.00000825●●●●●●
58. 120085408 c.419A>G p.N140S missense 0.00000825●●●●●●
59. 120072041 c.91G>C p.D31H missense 0.00000825●●●●●●
60. 120107296 c.736A>G p.I246V missense 0.00000825●●●●●●
61. 120085479 c.490G>A p.E164K missense 0.00000825●●●●●●
62. 120085381 c.392T>A p.L131Q missense 0.00000825●●●●●●
63. 120085392 c.403C>T p.P135S missense 0.00000825●●●●●●
64. 120072197 c.246+1G>A essential splice site 0.00000825●●●●●●
65. 120085411 c.422C>A p.T141N missense 0.00000825●●●●●●
66. 120107305 c.745A>G p.T249A missense 0.00000825●●●●●●
67. 120085391 c.402T>G p.I134M missense 0.00000825●●●●●●
68. 120085428 c.439T>C p.Y147H missense 0.00000825●●●●●●
69. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825●●●●●●
70. 120072196 c.246T>C splice site 0.00000825●●●●●●
71. 120072177 c.227A>G p.Q76R missense 0.00000825●●●●●●
72. 120079207 c.277G>A p.D93N missense 0.00000824●●●●●●
73. 120079193 c.263A>G p.Q88R missense 0.00000824●●●●●●
74. 120072134 c.184C>A p.Q62K missense 0.00000824●●●●●●
75. 120107270 c.710A>G p.K237R missense 0.00000824●●●●●●
76. 120079174 c.247-3C>T splice site 0.00000824●●●●●●
77. 120072056 c.106G>C p.V36L missense 0.00000824●●●●●●
78. 120072083 c.133G>A p.E45K missense 0.00000824●●●●●●
79. 120079222 c.292G>C p.E98Q missense 0.00000824●●●●●●
80. 120072148 c.198C>A p.D66E missense 0.00000824●●●●●●
81. 120072131 c.181C>G p.R61G missense 0.00000824●●●●●●
82. 120079274 c.344G>A p.R115Q missense 0.00000824●●●●●●
83. 120079201 c.271A>G p.K91E missense 0.00000824●●●●●●
84. 120072107 c.157C>T p.R53C missense 0.00000824●●●●●●
85. 120107264 c.704C>A p.T235N missense 0.00000824●●●●●●
86. 120107189 c.629A>G p.E210G missense 0.00000824●●●●●●
87. 120079240 c.310G>A p.A104T missense 0.00000824●●●●●●
88. 120079293 c.363C>A p.D121E missense 0.00000824●●●●●●
89. 120079186 c.256G>A p.A86T missense 0.00000824●●●●●●
90. 120079205 c.275T>C p.V92A missense 0.00000824●●●●●●
91. 120072107 c.157C>G p.R53G missense 0.00000824●●●●●●
92. 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.