DSG2 truncating variants in ExAC

DSG2 gene summary
DSG2 variants in DCM

The table below lists the DSG2 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. 29126388 c.3039C>A p.Tyr1013Ter nonsense 0.00004144●●●●●●
2. 29126404 c.3055_3058delAGAG p.Glu1020AlafsTer18 frameshift 0.00004142●●●●●●
3. 29115269 c.1317_1318delTG p.Val440GlyfsTer6 frameshift 0.00003173●●●●●●
4. 29101207 c.523+1G>C essential splice site 0.00002525●●●●●●
5. 29100904 c.355C>T p.R119X nonsense 0.00002524●●●●●●
6. 29126490 c.3141_3144delAGAA p.Arg1049PhefsTer2 frameshift 0.00002484●●●●●●
7. 29125898 c.2549delA p.Ile851LeufsTer13 frameshift 0.00001666●●●●●●
8. 29101176 c.493_494insT p.G166Wfs*4 frameshift 0.00001657●●●●●●
9. 29118861 c.1799delG p.Glu601LysfsTer18 frameshift 0.00001657●●●●●●
10. 29116164 c.1424-1G>T essential splice site 0.00000842●●●●●●
11. 29101207 c.523+1G>T essential splice site 0.00000842●●●●●●
12. 29125967 c.2618delA p.Thr874LeufsTer29 frameshift 0.00000834●●●●●●
13. 29099765 c.82-1G>A essential splice site 0.00000834●●●●●●
14. 29100820 c.271G>T p.G91X nonsense 0.00000832●●●●●●
15. 29099775 c.91delA p.Thr31GlnfsTer14 frameshift 0.00000832●●●●●●
16. 29110949 c.1015-1delG essential splice site 0.00000831●●●●●●
17. 29104665 c.829-1_839delGCTTGAAGGGAT essential splice site 0.00000831●●●●●●
18. 29118943 c.1879+2T>C essential splice site 0.00000830●●●●●●
19. 29110951 c.1016delA p.Val340Ter frameshift 0.00000830●●●●●●
20. 29102213 c.690+1G>A essential splice site 0.00000829●●●●●●
21. 29104739 c.902delT p.Ile301LysfsTer23 frameshift 0.00000828●●●●●●
22. 29118826 c.1764_1765delCA p.Thr589SerfsTer3 frameshift 0.00000828●●●●●●
23. 29111023 c.1088C>A p.S363X nonsense 0.00000828●●●●●●
24. 29118833 c.1771_1772delTG p.Cys591Ter frameshift 0.00000828●●●●●●

* 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.