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. 120085436 c.447A>T p.Q149H missense 0.00001649●●●●●●
26. 120072172 c.222G>T p.Q74H missense 0.00001649●●●●●●
27. 120072171 c.221A>G p.Q74R missense 0.00001649●●●●●●
28. 120085411 c.422C>T p.T141I missense 0.00001649●●●●●●
29. 120079185 c.255T>G p.I85M missense 0.00001648●●●●●●
30. 120072132 c.182G>A p.R61H missense 0.00001648●●●●●●
31. 120072108 c.158G>A p.R53H missense 0.00001648●●●●●●
32. 120107209 c.649C>A p.P217T missense 0.00001648●●●●●●
33. 120079232 c.302C>A p.S101X nonsense 0.00001648●●●●●●
34. 120072131 c.181C>T p.R61C missense 0.00001648●●●●●●
35. 120057682 c.2T>C p.Met1? missense 0.00000854●●●●●●
36. 120057681 c.1A>C p.Met1? missense 0.00000854●●●●●●
37. 120057733 c.53T>G p.I18S missense 0.00000849●●●●●●
38. 120057733 c.53T>C p.I18T missense 0.00000849●●●●●●
39. 120057719 c.39G>T p.Q13H missense 0.00000845●●●●●●
40. 120057699 c.19A>G p.M7V 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. 120107143 c.583T>C p.F195L missense 0.00000828●●●●●●
46. 120107333 c.773T>A p.V258E missense 0.00000828●●●●●●
47. 120085516 c.527A>C p.K176T missense 0.00000827●●●●●●
48. 120085361 c.377-5C>T splice site 0.00000827●●●●●●
49. 120107311 c.751G>A p.E251K missense 0.00000826●●●●●●
50. 120085498 c.509T>A p.L170H missense 0.00000826●●●●●●
51. 120107155 c.595T>A p.S199T missense 0.00000826●●●●●●
52. 120085375 c.386G>A p.G129E missense 0.00000826●●●●●●
53. 120107313 c.753A>C p.E251D missense 0.00000826●●●●●●
54. 120085392 c.403C>T p.P135S missense 0.00000825●●●●●●
55. 120072197 c.246+1G>A essential splice site 0.00000825●●●●●●
56. 120107309 c.749C>T p.T250I missense 0.00000825●●●●●●
57. 120072041 c.91G>C p.D31H missense 0.00000825●●●●●●
58. 120107305 c.745A>G p.T249A missense 0.00000825●●●●●●
59. 120107296 c.736A>G p.I246V missense 0.00000825●●●●●●
60. 120085484 c.495delT p.Leu166TyrfsTer49 frameshift 0.00000825●●●●●●
61. 120085488 c.499_500insA p.Tyr167Ter frameshift 0.00000825●●●●●●
62. 120072196 c.246T>C splice site 0.00000825●●●●●●
63. 120085428 c.439T>C p.Y147H missense 0.00000825●●●●●●
64. 120072195 c.245A>G p.N82S missense 0.00000825●●●●●●
65. 120085479 c.490G>A p.E164K missense 0.00000825●●●●●●
66. 120085417 c.428C>T p.A143V missense 0.00000825●●●●●●
67. 120085411 c.422C>A p.T141N missense 0.00000825●●●●●●
68. 120072177 c.227A>G p.Q76R missense 0.00000825●●●●●●
69. 120085381 c.392T>A p.L131Q missense 0.00000825●●●●●●
70. 120085391 c.402T>G p.I134M missense 0.00000825●●●●●●
71. 120085408 c.419A>G p.N140S missense 0.00000825●●●●●●
72. 120072148 c.198C>A p.D66E missense 0.00000824●●●●●●
73. 120079186 c.256G>A p.A86T missense 0.00000824●●●●●●
74. 120079240 c.310G>A p.A104T missense 0.00000824●●●●●●
75. 120079222 c.292G>C p.E98Q missense 0.00000824●●●●●●
76. 120079207 c.277G>A p.D93N missense 0.00000824●●●●●●
77. 120085453 c.464C>T p.A155V missense 0.00000824●●●●●●
78. 120079205 c.275T>C p.V92A missense 0.00000824●●●●●●
79. 120079174 c.247-3C>T splice site 0.00000824●●●●●●
80. 120079201 c.271A>G p.K91E missense 0.00000824●●●●●●
81. 120079193 c.263A>G p.Q88R missense 0.00000824●●●●●●
82. 120079274 c.344G>A p.R115Q missense 0.00000824●●●●●●
83. 120079293 c.363C>A p.D121E missense 0.00000824●●●●●●
84. 120072134 c.184C>A p.Q62K missense 0.00000824●●●●●●
85. 120107270 c.710A>G p.K237R missense 0.00000824●●●●●●
86. 120072083 c.133G>A p.E45K missense 0.00000824●●●●●●
87. 120107264 c.704C>A p.T235N missense 0.00000824●●●●●●
88. 120072056 c.106G>C p.V36L missense 0.00000824●●●●●●
89. 120072107 c.157C>T p.R53C missense 0.00000824●●●●●●
90. 120107189 c.629A>G p.E210G missense 0.00000824●●●●●●
91. 120072131 c.181C>G p.R61G missense 0.00000824●●●●●●
92. 120072107 c.157C>G p.R53G 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.