ADRA2B truncating variants in ExAC

ADRA2B gene summary
ADRA2B variants in

The table below lists the ADRA2B 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. 96780999 c.890_891delCT p.Ala297GlyfsTer11 frameshift 0.00011239●●●●●●
2. 96781596 c.293C>A p.S98X nonsense 0.00011169●●●●●●
3. 96781004 c.885_888delTGAA p.Asp295GlufsTer54 frameshift 0.00008111●●●●●●
4. 96780547 c.1342dupT p.Ter448Leu frameshift 0.00007185●●●●●●
5. 96780823 c.1066C>T p.R356X nonsense 0.00003770●●●●●●
6. 96780563 c.1326G>A p.W442X nonsense 0.00003663●●●●●●
7. 96781231 c.658C>T p.Q220X nonsense 0.00001686●●●●●●
8. 96781267 c.622delA p.Arg208GlyfsTer142 frameshift 0.00001676●●●●●●
9. 96780848 c.1041_1042insTA p.Ala348Ter frameshift 0.00001062●●●●●●
10. 96780547 c.1342T>C p.Ter448ArgextTer39 nonsense 0.00001017●●●●●●
11. 96780793 c.1096_1103delTTCACCTT p.Phe366ArgfsTer172 frameshift 0.00000870●●●●●●
12. 96780756 c.1133delT p.Val378GlyfsTer41 frameshift 0.00000866●●●●●●
13. 96780764 c.1125_1126insA p.Val376SerfsTer165 frameshift 0.00000865●●●●●●
14. 96780753 c.1136delT p.Leu379ProfsTer40 frameshift 0.00000865●●●●●●
15. 96781577 c.312C>A p.C104X nonsense 0.00000860●●●●●●
16. 96780609 c.1280delA p.Asn427ThrfsTer140 frameshift 0.00000856●●●●●●
17. 96781696 c.193delA p.Ile65SerfsTer50 frameshift 0.00000852●●●●●●
18. 96781420 c.469C>T p.Q157X nonsense 0.00000842●●●●●●

* 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.