NOS3 truncating variants in ExAC

NOS3 gene summary
NOS3 variants in

The table below lists the NOS3 truncating variants found in the ExAC population database. 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. 150698397 c.1312delA p.Arg438GlyfsTer66 frameshift 0.00003311●●●●●●
2. 150706066 c.2161C>T p.R721X nonsense 0.00003158●●●●●●
3. 150707691 c.2692_2693insG p.Arg899ThrfsTer133 frameshift 0.00002804●●●●●●
4. 150695676 c.724C>T p.R242X nonsense 0.00002016●●●●●●
5. 150704338 c.2086C>T p.R696X nonsense 0.00001793●●●●●●
6. 150696132 c.915_916insC p.Glu308ArgfsTer5 frameshift 0.00001676●●●●●●
7. 150699000 c.1594C>T p.Q532X nonsense 0.00001670●●●●●●
8. 150711007 c.3450+1G>A essential splice site 0.00001457●●●●●●
9. 150710929 c.3373delC p.Gln1125ArgfsTer45 frameshift 0.00001262●●●●●●
10. 150707775 c.2776_2777insCA p.Leu927HisfsTer32 frameshift 0.00001186●●●●●●
11. 150695723 c.771delG p.Asp258MetfsTer101 frameshift 0.00001013●●●●●●
12. 150706084 c.2179A>T p.K727X nonsense 0.00001009●●●●●●
13. 150711250 c.3605delG p.Ser1202ThrfsTer33 frameshift 0.00000982●●●●●●
14. 150707816 c.2817C>A p.Y939X nonsense 0.00000945●●●●●●
15. 150706357 c.2324+2T>G essential splice site 0.00000876●●●●●●
16. 150708075 c.2984+1_2984+4delGTAA essential splice site 0.00000872●●●●●●
17. 150708027 c.2937G>A p.W979X nonsense 0.00000859●●●●●●
18. 150711189 c.3544G>T p.E1182X nonsense 0.00000851●●●●●●
19. 150696043 c.826C>T p.Q276X nonsense 0.00000851●●●●●●
20. 150692313 c.181C>T p.Q61X nonsense 0.00000850●●●●●●
21. 150710317 c.3107-2A>G essential splice site 0.00000845●●●●●●
22. 150696174 c.956+1G>A essential splice site 0.00000840●●●●●●
23. 150699012 c.1606C>T p.Q536X nonsense 0.00000836●●●●●●
24. 150697629 c.1175_1176delCC p.Leu393ValfsTer41 frameshift 0.00000832●●●●●●
25. 150698642 c.1439G>A p.W480X nonsense 0.00000829●●●●●●
26. 150703524 c.1762delG p.Ala588LeufsTer3 frameshift 0.00000827●●●●●●
27. 150704049 c.1893delG p.Glu632SerfsTer106 frameshift 0.00000824●●●●●●
28. 150704062 c.1906_1909delACAG p.Asp637ValfsTer100 frameshift 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.