SCN5A truncating variants in ExAC


The table below lists the SCN5A 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. 38591991 c.5872C>T p.R1958X nonsense 0.00007039
2. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804
3. 38592951 c.4912C>T p.R1638X nonsense 0.00002471
4. 38591813 c.6050G>A nonsense 0.00001850
5. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656
6. 38603905 c.3963+1G>A essential splice site 0.00001557
7. 38655327 c.612-2A>G essential splice site 0.00001451
8. 38663981 c.393-1C>T essential splice site 0.00001262
9. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184
10. 38598070 c.4300-1G>T essential splice site 0.00000891
11. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872
12. 38595769 c.4813+1G>A essential splice site 0.00000862
13. 38592051 c.5812G>T p.E1938X nonsense 0.00000840
14. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831
15. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829
16. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826
17. 38592978 c.4885C>T p.R1629X 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.