DSC2 truncating variants in ExAC

DSC2 gene summary
DSC2 variants in DCM

The table below lists the DSC2 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 frequency▼Populations*
1. 28654874 c.1664-1G>C essential splice site 0.00001049●●●●●●
2. 28662946 c.1023_1024insT p.Ile342TyrfsTer3 frameshift 0.00000847●●●●●●
3. 28672063 c.354+1G>A essential splice site 0.00000828●●●●●●
4. 28667692 c.715_728dupAACTACCCAATTTT p.Phe243LeufsTer43 frameshift 0.00000827●●●●●●
5. 28667778 c.631-2A>G p.Ile211MetfsX11 frameshift 0.00000827●●●●●●
6. 28667744 c.663T>A p.Y221X nonsense 0.00000826●●●●●●
7. 28662346 c.1121delT p.Leu374TyrfsTer10 frameshift 0.00000826●●●●●●
8. 28651570 c.2125+1G>A essential splice site 0.00000825●●●●●●
9. 28648064 c.2623C>T p.R875X nonsense 0.00000825●●●●●●
10. 28651571 c.2125delT frameshift 0.00000825●●●●●●
11. 28673520 c.154+2T>C essential splice site 0.00000824●●●●●●
12. 28659821 c.1655C>G p.S552X nonsense 0.00000824●●●●●●
13. 28666556 c.925delT p.Ser309LeufsTer3 frameshift 0.00000824●●●●●●
14. 28648895 c.2473G>T p.Glu825Ter nonsense 0.00000824●●●●●●
15. 28648970 c.2398dupG p.Ala800GlyfsTer37 frameshift 0.00000824●●●●●●
16. 28650742 c.2200C>T p.Q734X 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.