PCSK9 truncating variants in ExAC

PCSK9 gene summary
PCSK9 variants in

The table below lists the PCSK9 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. 55529215 c.2037C>A p.C679X nonsense 0.00077994●●●●●●
2. 55512222 c.426C>G p.Y142X nonsense 0.00027191●●●●●●
3. 55523149 c.1142_1143delCA p.Gln382GlufsTer44 frameshift 0.00005269●●●●●●
4. 55518420 c.755delT p.V252Gfs*15 frameshift 0.00005050●●●●●●
5. 55527230 c.1863+1G>A essential splice site 0.00003856●●●●●●
6. 55505712 c.202delG frameshift 0.00003730●●●●●●
7. 55527221 c.1855C>T p.Q619X nonsense 0.00003648●●●●●●
8. 55512320 c.523+1_523+2insT essential splice site 0.00003338●●●●●●
9. 55517991 c.564_565insAT p.Gln190TyrfsTer78 frameshift 0.00002473●●●●●●
10. 55524195 c.1378delG p.Val460TyrfsTer25 frameshift 0.00002472●●●●●●
11. 55527110 c.1744C>T p.R582X nonsense 0.00002401●●●●●●
12. 55521683 c.817delA p.Ser274AlafsTer73 frameshift 0.00002234●●●●●●
13. 55524322 c.1503+2T>C essential splice site 0.00001975●●●●●●
14. 55524294 c.1477delG p.Lys494SerfsTer86 frameshift 0.00001748●●●●●●
15. 55523141 c.1134C>A p.C378X nonsense 0.00001720●●●●●●
16. 55518085 c.657+1G>T essential splice site 0.00001657●●●●●●
17. 55518057 c.630delG p.Glu211ArgfsTer56 frameshift 0.00001653●●●●●●
18. 55521769 c.903C>A p.C301X nonsense 0.00001454●●●●●●
19. 55527144 c.1778_1781delAGGC p.Glu593AlafsTer29 frameshift 0.00001318●●●●●●
20. 55523181 c.1174delG p.Val392TrpfsTer7 frameshift 0.00001095●●●●●●
21. 55523151 c.1144C>T p.Q382X nonsense 0.00000894●●●●●●
22. 55529091 c.1913_1914insC p.G640Wfs*71 frameshift 0.00000866●●●●●●
23. 55529201 c.2023delG p.Val675LeufsTer130 frameshift 0.00000845●●●●●●
24. 55529122 c.1944C>A p.Y648X nonsense 0.00000840●●●●●●
25. 55518321 c.658-2A>C essential splice site 0.00000836●●●●●●
26. 55518321 c.658-2A>G essential splice site 0.00000836●●●●●●
27. 55523756 c.1228G>T p.E410X nonsense 0.00000829●●●●●●
28. 55523100 c.1093delG p.Glu366ArgfsTer33 frameshift 0.00000827●●●●●●
29. 55523037 c.1030C>T p.Q344X nonsense 0.00000824●●●●●●
30. 55512194 c.400-2A>C essential splice site 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.