ZBTB17 splice variants in ExAC


The table below lists the ZBTB17 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. 16272793 c.395-4C>A splice site 0.00224398
2. 16270394 c.1372-4A>G splice site 0.00199558
3. 16272798 c.395-9C>T splice site 0.00041672
4. 16268919 c.2039-4G>A splice site 0.00010032
5. 16273617 c.207C>T splice site 0.00008676
6. 0 c.-90+5G>T splice site 0.00008556
7. 16268756 c.2129-9C>T splice site 0.00007449
8. 16270788 c.1371+7G>A splice site 0.00004895
9. 16271705 c.662-8C>T splice site 0.00004729
10. 16271702 c.662-5C>T splice site 0.00004714
11. 16271429 c.927+3G>C splice site 0.00003123
12. 16270295 c.1459+8C>T splice site 0.00002871
13. 16269886 c.1697+8C>G splice site 0.00002680
14. 16268920 c.2039-5C>T splice site 0.00002510
15. 16272792 c.395-3C>T splice site 0.00002492
16. 16271343 c.928-9C>T splice site 0.00001911
17. 16269896 c.1695G>A splice site 0.00001778
18. 16269236 c.1829-3C>T splice site 0.00001711
19. 0 c.-2-6C>G splice site 0.00001687
20. 16274779 c.205+7C>T splice site 0.00001667
21. 16269020 c.2038+4C>G splice site 0.00001666
22. 16269020 c.2038+4C>T splice site 0.00001666
23. 16270295 c.1459+8C>A splice site 0.00000957
24. 16269886 c.1697+8C>T splice site 0.00000893
25. 16269887 c.1697+7C>T splice site 0.00000893
26. 16272340 c.536-5C>A splice site 0.00000873
27. 16272202 c.661+8C>G splice site 0.00000866
28. 16272203 c.661+7C>G splice site 0.00000866
29. 16272204 c.661+6C>T splice site 0.00000865
30. 16272207 c.661+3A>G splice site 0.00000865
31. 16271186 c.1070+6G>A splice site 0.00000851
32. 16269551 c.1828+8G>A splice site 0.00000842
33. 16270018 c.1577-4C>T splice site 0.00000841
34. 0 c.-2-3C>T splice site 0.00000840
35. 16268922 c.2039-7C>T splice site 0.00000836
36. 16270090 c.1576+4G>C splice site 0.00000830
37. 16268752 c.2129-5delC splice site 0.00000827

* 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.