CTNNA3 truncating variants in ExAC

CTNNA3 gene summary
CTNNA3 variants in

The table below lists the CTNNA3 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. 67680276 c.2500C>T p.R834X nonsense 0.00009886●●●●●●
2. 68526176 c.1129-2A>T essential splice site 0.00009131●●●●●●
3. 67680138 c.2638dupA p.Ile880AsnfsTer9 frameshift 0.00009065●●●●●●
4. 68040380 c.1733-1G>C essential splice site 0.00003338●●●●●●
5. 68138949 c.1693G>T p.E565X nonsense 0.00003297●●●●●●
6. 67680188 c.2588delA p.Lys863SerfsTer24 frameshift 0.00003296●●●●●●
7. 68940233 c.889C>T p.R297X nonsense 0.00002476●●●●●●
8. 68940149 c.973C>T p.R325X nonsense 0.00002475●●●●●●
9. 68979586 c.622C>T p.R208X nonsense 0.00001657●●●●●●
10. 67680159 c.2617C>T p.R873X nonsense 0.00001648●●●●●●
11. 69366675 c.232C>T p.Q78X nonsense 0.00001648●●●●●●
12. 68979601 c.607G>T p.E203X nonsense 0.00000835●●●●●●
13. 67829215 c.2010delA p.Glu671LysfsTer13 frameshift 0.00000830●●●●●●
14. 68040227 c.1884+1G>T essential splice site 0.00000827●●●●●●
15. 67726500 c.2270delC p.Pro757GlnfsTer23 frameshift 0.00000827●●●●●●
16. 67829199 c.2026C>T p.Q676X nonsense 0.00000826●●●●●●
17. 68138909 c.1732+1G>A essential splice site 0.00000826●●●●●●
18. 0 c.-5-2A>G essential splice site 0.00000826●●●●●●
19. 68040322 c.1790C>A p.S597X nonsense 0.00000826●●●●●●
20. 68139111 c.1532-1G>A essential splice site 0.00000826●●●●●●
21. 69407256 c.16_17insA p.Pro6HisfsTer81 frameshift 0.00000825●●●●●●
22. 67680146 c.2630delA p.Lys877ArgfsTer10 frameshift 0.00000824●●●●●●
23. 68138953 c.1689C>G p.Y563X nonsense 0.00000824●●●●●●
24. 69366700 c.207_208dupAT p.Leu70TyrfsTer2 frameshift 0.00000824●●●●●●
25. 68139060 c.1582C>T p.Q528X nonsense 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.