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

* 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.