CCT6B truncating variants in ExAC

CCT6B gene summary
CCT6B variants in

The table below lists the CCT6B 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. 33269927 c.615-2A>G essential splice site 0.00548577●●●●●●
2. 33258023 c.1395delA p.Val466PhefsTer14 frameshift 0.00059372●●●●●●
3. 33255093 c.1567C>T p.R523X nonsense 0.00010741●●●●●●
4. 33281488 c.467T>G p.L156X nonsense 0.00009107●●●●●●
5. 33269536 c.852_855delGTCA p.S285Ifs*17 frameshift 0.00005002●●●●●●
6. 33258023 c.1395dupA p.Val466SerfsTer4 frameshift 0.00003298●●●●●●
7. 33269502 c.885+1G>A essential splice site 0.00002581●●●●●●
8. 33269814 c.725+1G>A essential splice site 0.00002061●●●●●●
9. 33285715 c.202-2A>G essential splice site 0.00001671●●●●●●
10. 33269534 c.854C>G p.S285X nonsense 0.00001667●●●●●●
11. 33285604 c.311_315delAACAA p.Lys104SerfsTer2 frameshift 0.00001662●●●●●●
12. 33269814 c.725+1G>T essential splice site 0.00001030●●●●●●
13. 33278972 c.611_612delCA p.Thr204LysfsTer36 frameshift 0.00000919●●●●●●
14. 33266720 c.981_984delTTGT p.Cys328ValfsTer5 frameshift 0.00000837●●●●●●
15. 33288399 c.14delA p.Lys5ArgfsTer40 frameshift 0.00000835●●●●●●
16. 33269605 c.783delA p.Ala262LeufsTer13 frameshift 0.00000833●●●●●●
17. 33269584 c.804dupA p.Asp269ArgfsTer2 frameshift 0.00000832●●●●●●
18. 33269567 c.821delT p.Ile274LysfsTer2 frameshift 0.00000831●●●●●●
19. 33255137 c.1524-1G>A essential splice site 0.00000830●●●●●●
20. 33281486 c.469C>T p.Q157X nonsense 0.00000828●●●●●●
21. 33267556 c.968+2T>C essential splice site 0.00000828●●●●●●
22. 33258065 c.1353delT p.Ala452LeufsTer12 frameshift 0.00000827●●●●●●
23. 33257990 c.1428delT p.Val477TrpfsTer3 frameshift 0.00000825●●●●●●
24. 33266296 c.1119_1125delCTTGTTG p.Leu375LysfsTer15 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.