CLCNKA truncating variants in ExAC

CLCNKA gene summary
CLCNKA variants in

The table below lists the CLCNKA 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. 16354556 c.910C>T p.R304X nonsense 0.00046964●●●●●●
2. 16358289 c.1707delG p.Val570LeufsTer2 frameshift 0.00036496●●●●●●
3. 16358742 c.1801C>T p.Q601X nonsense 0.00018840●●●●●●
4. 16349169 c.55C>T p.Q19X nonsense 0.00017726●●●●●●
5. 16353931 c.781+1G>C essential splice site 0.00008358●●●●●●
6. 16349215 c.100+1G>T essential splice site 0.00005813●●●●●●
7. 16349179 c.65G>A p.W22X nonsense 0.00004740●●●●●●
8. 16349139 c.25delG p.Glu9ArgfsTer8 frameshift 0.00004352●●●●●●
9. 16353209 c.594delC p.Asn198LysfsTer98 frameshift 0.00003314●●●●●●
10. 16358787 c.1845+1G>T essential splice site 0.00002619●●●●●●
11. 16353927 c.778C>T p.Q260X nonsense 0.00002504●●●●●●
12. 16355708 c.1141G>T p.E381X nonsense 0.00002487●●●●●●
13. 16351300 c.272_273insC p.Arg92ProfsTer101 frameshift 0.00002475●●●●●●
14. 16354383 c.849_850insT p.Val286CysfsTer38 frameshift 0.00001724●●●●●●
15. 16358980 c.1888delC p.Pro630GlnfsTer2 frameshift 0.00001657●●●●●●
16. 16354543 c.897C>G p.Tyr299Ter nonsense 0.00001648●●●●●●
17. 16356294 c.1296_1297insG p.Ala434SerfsTer17 frameshift 0.00001648●●●●●●
18. 16358787 c.1845+1G>A essential splice site 0.00000873●●●●●●
19. 16358700 c.1759_1760insC p.Gln588ProfsTer19 frameshift 0.00000852●●●●●●
20. 16358696 c.1757-2A>G essential splice site 0.00000852●●●●●●
21. 16360104 c.2017-2A>C essential splice site 0.00000834●●●●●●
22. 16353252 c.637_638delTT p.Phe213CysfsTer68 frameshift 0.00000831●●●●●●
23. 16356531 c.1369_1375delGTTACCA p.Val457IlefsTer20 frameshift 0.00000831●●●●●●
24. 16355795 c.1227+1G>A essential splice site 0.00000831●●●●●●
25. 16355796 c.1227+2T>C essential splice site 0.00000831●●●●●●
26. 16353822 c.673G>T p.E225X nonsense 0.00000830●●●●●●
27. 16358339 c.1756+1G>A essential splice site 0.00000830●●●●●●
28. 16359022 c.1929+1G>A essential splice site 0.00000829●●●●●●
29. 16353866 c.717_718insT p.Phe241LeufsTer41 frameshift 0.00000829●●●●●●
30. 16356458 c.1298-2A>C essential splice site 0.00000828●●●●●●
31. 16355342 c.1053+2T>C essential splice site 0.00000826●●●●●●
32. 16350420 c.226C>T p.R76X nonsense 0.00000825●●●●●●
33. 16352601 c.359-2A>C essential splice site 0.00000824●●●●●●
34. 16356297 c.1297+2T>A essential splice site 0.00000824●●●●●●
35. 16356298 c.1297+3delG essential splice site 0.00000824●●●●●●
36. 16352608 c.364delG p.Gly122GlufsTer5 frameshift 0.00000824●●●●●●

* 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.