TNNI3 splice variants in ExAC


The table below lists the TNNI3 splice 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 frequencyPopulations*
1. 55665578 c.373-4C>G splice site 0.00009159
2. 55668509 c.25-8T>A splice site 0.35374061
3. 55666101 c.372+8G>T splice site 0.00003428
4. 55668505 c.25-4C>T splice site 0.00027221
5. 55667554 c.282+15G>A splice site 0.00000879
6. 55666102 c.372+7C>T splice site 0.00002561
7. 55667706 c.151-6C>G splice site 0.00008282
8. 55668683 c.12-7delC splice site 0.00047899
9. 55663295 c.550-10C>T splice site 0.00056841
10. 55665584 c.373-10T>G splice site 0.99996672
11. 55663293 c.550-8T>A splice site 0.00001669
12. 55665395 c.549+3G>T splice site 0.00001686
13. 55665577 c.373-3C>T splice site 0.00000833
14. 55665577 c.373-3C>A splice site 0.00000833
15. 55665581 c.373-7C>T splice site 0.00000833
16. 55667564 c.282+5C>T splice site 0.00001761
17. 55667707 c.151-7T>C splice site 0.00001383
18. 55667971 c.150G>A splice site 0.00004211
19. 55668020 c.109-8C>G splice site 0.00004149
20. 55668410 c.108+8G>T splice site 0.00011865
21. 55668507 c.25-6A>G splice site 0.00001438
22. 55668657 c.24+7G>T splice site 0.00003731
23. 55668664 c.24G>A splice site 0.00000929
24. 55668676 c.12G>C splice site 0.00000924
25. 55668680 c.12-4C>T splice site 0.00000918
26. 55668939 c.11+8A>G splice site 0.00000831

* 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.