CALR3 truncating variants in ExAC

CALR3 gene summary
CALR3 variants in

The table below lists the CALR3 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. 16594903 c.516C>A p.Tyr172Ter nonsense 0.00000825●●●●●●
2. 16589983 c.1114G>T p.E372X nonsense 0.00002471●●●●●●
3. 16590058 c.1039C>T p.Q347X nonsense 0.00000824●●●●●●
4. 16591464 c.972C>A p.Y324X nonsense 0.00000825●●●●●●
5. 16601178 c.397G>T p.G133X nonsense 0.00000824●●●●●●
6. 16601358 c.217C>T p.R73X nonsense 0.00000824●●●●●●
7. 16601376 c.199C>T p.Q67X nonsense 0.00000824●●●●●●
8. 16606645 c.110G>A p.W37X nonsense 0.00000824●●●●●●
9. 16606561 c.193+1G>A essential splice site 0.00000827●●●●●●
10. 16590087 c.1012-2A>T essential splice site 0.00000824●●●●●●
11. 16591519 c.919-2A>C essential splice site 0.00001795●●●●●●
12. 16595974 c.492_492+4delGGTAA essential splice site 0.00002706●●●●●●
13. 16595972 c.492+2T>G essential splice site 0.00001796●●●●●●
14. 16601383 c.194-2A>G essential splice site 0.00000824●●●●●●
15. 16601287 c.288delA p.V97*fs*1 frameshift 0.00000824●●●●●●
16. 16594852 c.567_570delGTCA p.Ser190LeufsTer6 frameshift 0.00001649●●●●●●
17. 16594855 c.564delT p.Gln189SerfsTer8 frameshift 0.00004122●●●●●●
18. 16601344 c.231delC p.Ser78LeufsTer20 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.