SCN5A truncating variants in ExAC

SCN5A gene summary
SCN5A variants in

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 frequency▼Populations*
1. 38663981 c.393-1C>T essential splice site 0.00001262●●●●●●
2. 38655327 c.612-2A>G essential splice site 0.00001451●●●●●●
3. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831●●●●●●
4. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184●●●●●●
5. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829●●●●●●
6. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826●●●●●●
7. 38603905 c.3963+1G>A essential splice site 0.00001557●●●●●●
8. 38598070 c.4300-1G>T essential splice site 0.00000891●●●●●●
9. 38595769 c.4813+1G>A essential splice site 0.00000862●●●●●●
10. 38592978 c.4885C>T p.R1629X nonsense 0.00000824●●●●●●
11. 38592951 c.4912C>T p.R1638X nonsense 0.00002471●●●●●●
12. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656●●●●●●
13. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804●●●●●●
14. 38592051 c.5812G>T p.E1938X nonsense 0.00000840●●●●●●
15. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872●●●●●●
16. 38591991 c.5872C>T p.R1958X nonsense 0.00007039●●●●●●
17. 38591813 c.6050G>A nonsense 0.00001850●●●●●●

* 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.