TNNI3 protein-altering variants in ExAC

TNNI3 gene summary
TNNI3 variants in HCM, DCM

The table below lists the TNNI3 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. 55666189 c.292C>T p.R98X nonsense 0.00009187●●●●●●
2. 55667647 c.204delG p.Arg69AlafsTer8 frameshift 0.00006338●●●●●●
3. 55667673 c.178G>C p.E60Q missense 0.00004720●●●●●●
4. 55667615 c.236G>T p.R79L missense 0.00004684●●●●●●
5. 55668471 c.55A>G p.I19V missense 0.00004328●●●●●●
6. 55668492 c.34C>T p.P12S missense 0.00004276●●●●●●
7. 55666163 c.318G>C p.K106N missense 0.00004160●●●●●●
8. 55666125 c.356C>A p.T119N missense 0.00003344●●●●●●
9. 55666150 c.331A>G p.R111G missense 0.00003329●●●●●●
10. 55665463 c.484C>T p.R162W missense 0.00003328●●●●●●
11. 55668953 c.5C>T p.A2V missense 0.00003325●●●●●●
12. 55667651 c.200A>T p.E67V missense 0.00003250●●●●●●
13. 55668474 c.52C>A p.P18T missense 0.00002876●●●●●●
14. 55666113 c.368C>T p.T123M missense 0.00002526●●●●●●
15. 55666177 c.304G>A p.A102T missense 0.00002499●●●●●●
16. 55665462 c.485G>A p.R162Q missense 0.00002498●●●●●●
17. 55665519 c.428C>A p.T143N missense 0.00002490●●●●●●
18. 55665513 c.434G>A p.R145Q missense 0.00002490●●●●●●
19. 55667684 c.167T>C p.I56T missense 0.00002453●●●●●●
20. 55667631 c.220C>A p.R74S missense 0.00001967●●●●●●
21. 55668431 c.95_99dupAGCCG p.His34SerfsTer18 frameshift 0.00001930●●●●●●
22. 55668434 c.92C>T p.T31M missense 0.00001723●●●●●●
23. 55666134 c.347C>G p.A116G missense 0.00001668●●●●●●
24. 55666173 c.308G>A p.R103H missense 0.00001665●●●●●●
25. 55665465 c.482C>T p.A161V missense 0.00001664●●●●●●
26. 55668469 c.57C>G p.I19M missense 0.00001447●●●●●●
27. 55668492 c.34C>A p.P12T missense 0.00001425●●●●●●
28. 55667694 c.157C>G p.L53V missense 0.00001311●●●●●●
29. 55667693 c.158T>G p.L53R missense 0.00001274●●●●●●
30. 55667685 c.166A>G p.I56V missense 0.00001231●●●●●●
31. 55667631 c.220C>G p.R74G missense 0.00000983●●●●●●
32. 55668665 c.23C>T p.A8V missense 0.00000931●●●●●●
33. 55667612 c.239G>A p.C80Y missense 0.00000930●●●●●●
34. 55668662 c.24+2T>A essential splice site 0.00000929●●●●●●
35. 55667606 c.245C>G p.P82R missense 0.00000921●●●●●●
36. 55667601 c.250G>C p.E84Q missense 0.00000906●●●●●●
37. 55667592 c.259G>A p.G87R missense 0.00000894●●●●●●
38. 55667593 c.258delC frameshift 0.00000894●●●●●●
39. 55667588 c.263T>G p.L88R missense 0.00000890●●●●●●
40. 55667579 c.272C>T p.A91V missense 0.00000885●●●●●●
41. 55667573 c.278T>C p.L93P missense 0.00000883●●●●●●
42. 55666111 c.370G>C p.E124Q missense 0.00000844●●●●●●
43. 55665406 c.541A>G p.T181A missense 0.00000841●●●●●●
44. 55666189 c.292C>G p.R98G missense 0.00000835●●●●●●
45. 55666188 c.293G>A p.R98Q missense 0.00000835●●●●●●
46. 55665450 c.497C>T p.S166F missense 0.00000834●●●●●●
47. 55666183 c.298C>T p.L100F missense 0.00000834●●●●●●
48. 55666141 c.340A>G p.I114V missense 0.00000833●●●●●●
49. 55666140 c.341T>C p.I114T missense 0.00000833●●●●●●
50. 55665575 c.373-1G>T essential splice site 0.00000832●●●●●●
51. 55666159 c.322G>A p.D108N missense 0.00000832●●●●●●
52. 55665540 c.407G>A p.R136Q missense 0.00000831●●●●●●
53. 55665526 c.421C>T p.R141W missense 0.00000830●●●●●●
54. 55665484 c.463A>G p.M155V missense 0.00000830●●●●●●
55. 55663279 c.556C>T p.R186W missense 0.00000830●●●●●●
56. 55665508 c.439G>C p.V147L missense 0.00000830●●●●●●
57. 55665514 c.433C>T p.R145W missense 0.00000830●●●●●●
58. 55663274 c.561G>T p.E187D missense 0.00000829●●●●●●
59. 55663249 c.586G>A p.D196N missense 0.00000828●●●●●●
60. 55663203 c.632G>T nonsense 0.00000828●●●●●●
61. 55663224 c.611G>T p.R204L missense 0.00000828●●●●●●
62. 55663232 c.603G>C p.M201I missense 0.00000828●●●●●●
63. 55663254 c.581A>C p.N194T missense 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.