MYOM1 truncating variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 truncating 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. 3134649 c.2383C>T p.R795X nonsense 0.00005101●●●●●●
2. 3193822 c.425C>G p.S142X nonsense 0.00000831●●●●●●
3. 3102500 c.3547C>T p.R1183X nonsense 0.00001662●●●●●●
4. 3116372 c.3260G>A p.W1087X nonsense 0.00002696●●●●●●
5. 3164412 c.1365G>A p.W455X nonsense 0.00003675●●●●●●
6. 3173994 c.1116T>A p.Tyr372Ter nonsense 0.00000829●●●●●●
7. 3067357 c.4961C>A p.S1654X nonsense 0.00000830●●●●●●
8. 3075733 c.4675C>T p.Q1559X nonsense 0.00001360●●●●●●
9. 3085082 c.4300C>T p.R1434X nonsense 0.00002731●●●●●●
10. 3089210 c.4099G>T p.E1367X nonsense 0.00000833●●●●●●
11. 3090717 c.3948C>A p.Y1316X nonsense 0.00000828●●●●●●
12. 3090779 c.3886C>T p.R1296X nonsense 0.00001657●●●●●●
13. 3102583 c.3464C>A p.S1155X nonsense 0.00000828●●●●●●
14. 3112356 c.3358C>T p.Q1120X nonsense 0.00000831●●●●●●
15. 3112407 c.3307C>T p.R1103X nonsense 0.00000872●●●●●●
16. 3126824 c.2866C>T p.Q956X nonsense 0.00000901●●●●●●
17. 3126844 c.2846C>G p.S949X nonsense 0.00000963●●●●●●
18. 3135581 c.2173G>T p.E725X nonsense 0.00000843●●●●●●
19. 3151782 c.1753C>T p.R585X nonsense 0.00002485●●●●●●
20. 3151788 c.1747C>T p.R583X nonsense 0.00002485●●●●●●
21. 3151867 c.1668G>A p.W556X nonsense 0.00000829●●●●●●
22. 3164279 c.1498C>T p.R500X nonsense 0.00003053●●●●●●
23. 3176071 c.991C>T p.R331X nonsense 0.00003335●●●●●●
24. 3188880 c.637C>T p.Q213X nonsense 0.00002484●●●●●●
25. 3174207 c.1023-1G>C essential splice site 0.00000830●●●●●●
26. 3089240 c.4070-1G>C essential splice site 0.00001678●●●●●●
27. 3149142 c.1900+1G>A essential splice site 0.00000829●●●●●●
28. 3176039 c.1022+1G>A essential splice site 0.00000869●●●●●●
29. 3085042 c.4339+1G>T essential splice site 0.00001833●●●●●●
30. 3086150 c.4138-1G>A essential splice site 0.00000859●●●●●●
31. 3090655 c.4009+1G>A essential splice site 0.00000828●●●●●●
32. 3090655 c.4009+1G>T essential splice site 0.00000828●●●●●●
33. 3094305 c.3728-1G>A essential splice site 0.00000976●●●●●●
34. 3100202 c.3683-1G>T essential splice site 0.00000828●●●●●●
35. 3100317 c.3682+1G>T essential splice site 0.00001675●●●●●●
36. 3112411 c.3304-1G>T essential splice site 0.00000875●●●●●●
37. 3126698 c.2991+1G>T essential splice site 0.00000889●●●●●●
38. 3142063 c.1901-2A>G essential splice site 0.00002509●●●●●●
39. 3149200 c.1844-1G>A essential splice site 0.00000832●●●●●●
40. 3151691 c.1843+1G>A essential splice site 0.00000850●●●●●●
41. 3168981 c.1175-2A>T essential splice site 0.00025514●●●●●●
42. 3176039 c.1022+1G>T essential splice site 0.00000869●●●●●●
43. 3214931 c.290+1G>A essential splice site 0.00000926●●●●●●
44. 3067273 c.5045dupA p.Lys1683GlufsTer16 frameshift 0.00030685●●●●●●
45. 3067313 c.5005_5006insGT p.Glu1669GlyfsTer11 frameshift 0.00000899●●●●●●
46. 3079195 c.4630delG p.Val1544TrpfsTer18 frameshift 0.00000845●●●●●●
47. 3079299 c.4526delT p.Val1509AlafsTer53 frameshift 0.00000832●●●●●●
48. 3079300 c.4525delG p.Val1509SerfsTer53 frameshift 0.00000832●●●●●●
49. 3085088 c.4294_4295delGA p.Asp1432Ter frameshift 0.00001359●●●●●●
50. 3089195 c.4114delT p.Cys1372ValfsTer5 frameshift 0.00000834●●●●●●
51. 3116472 c.3160_3161delTC p.Ser1054ThrfsTer38 frameshift 0.00000869●●●●●●
52. 3119925 c.3060_3061insTGGGC p.Ala1021TrpfsTer7 frameshift 0.00001029●●●●●●
53. 3129234 c.2790_2793delCAGA p.Asp930GlufsTer40 frameshift 0.00001812●●●●●●
54. 3129251 c.2773delC p.Leu925Ter frameshift 0.00000849●●●●●●
55. 3129406 c.2618delC p.Ala873ValfsTer24 frameshift 0.00001656●●●●●●
56. 3129447 c.2577dupG p.Arg860AlafsTer4 frameshift 0.00016566●●●●●●
57. 3134715 c.2317_2318insA p.Ile773AsnfsTer15 frameshift 0.00000828●●●●●●
58. 3168872 c.1282_1283delGT p.Val428CysfsTer5 frameshift 0.00000834●●●●●●
59. 3168898 c.1256delG p.Gly419GlufsTer4 frameshift 0.00000845●●●●●●
60. 3188857 c.660_661insCC p.Val221ProfsTer25 frameshift 0.00002488●●●●●●
61. 3188875 c.642_660delCACGGCATCCAGGCAGTCTinsCACGGCATCCAGGCAGTCCATGGCATCCAGGCAGT p.Val221MetfsTer22 frameshift 0.00002488●●●●●●
62. 3188969 c.548delA p.Gln183ArgfsTer62 frameshift 0.00003312●●●●●●
63. 3215013 c.209dupA p.Gln71AlafsTer11 frameshift 0.00000848●●●●●●
64. 3215158 c.64_65insCAACAAGGACC p.Val22AlafsTer9 frameshift 0.00000876●●●●●●
65. 3215160 c.62_63insTCTCAGCTAC p.Val22LeufsTer63 frameshift 0.00000892●●●●●●
66. 3215219 c.3_4insA p.Ser2IlefsTer13 frameshift 0.00001065●●●●●●

* 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.