DES truncating variants in ExAC

The table below lists the DES truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 220290468 c.1371+1G>A essential splice site 0.00007697
2. 220283553 c.369delC p.Ile123MetfsTer18 frameshift 0.00007007
3. 220283443 c.259G>T p.E87X nonsense 0.00004147
4. 220288543 c.1288+1G>A essential splice site 0.00001648
5. 220288539 c.1285C>T p.R429X nonsense 0.00001648
6. 220284872 c.634C>T p.R212X nonsense 0.00001647
7. 220285637 c.985C>T p.Q329X nonsense 0.00000833
8. 220286101 c.1063C>T p.R355X nonsense 0.00000825

* 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.