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

* 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.