LIPC truncating variants in ExAC

LIPC gene summary
LIPC variants in

The table below lists the LIPC 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. 58838103 c.737_738insCG p.G247Afs*12 frameshift 0.00029653●●●●●●
2. 58834168 c.456+2T>C essential splice site 0.00008967●●●●●●
3. 58834007 c.297G>A p.W99X nonsense 0.00005239●●●●●●
4. 58861012 c.1486C>T p.R496X nonsense 0.00003750●●●●●●
5. 58861024 c.1498T>C p.Ter500ArgextTer10 nonsense 0.00002995●●●●●●
6. 58834751 c.475C>T p.R159X nonsense 0.00001647●●●●●●
7. 58834731 c.457-2A>G essential splice site 0.00001647●●●●●●
8. 58830636 c.193C>T p.R65X nonsense 0.00001647●●●●●●
9. 58833982 c.274-2A>G essential splice site 0.00000915●●●●●●
10. 58861000 c.1474delA p.Thr493HisfsTer10 frameshift 0.00000898●●●●●●
11. 58834005 c.295_296insTC p.Trp99PhefsTer10 frameshift 0.00000873●●●●●●
12. 58838161 c.795_799delGCACG p.His266LeufsTer37 frameshift 0.00000825●●●●●●
13. 58855702 c.1170-2A>G essential splice site 0.00000825●●●●●●
14. 58838122 c.756delT p.Gly253AlafsTer5 frameshift 0.00000824●●●●●●
15. 58855760 c.1226delA p.D409Vfs*5 frameshift 0.00000824●●●●●●
16. 58830630 c.187C>T p.Q63X nonsense 0.00000824●●●●●●
17. 58724244 c.13_14insCCCT p.Cys7ProfsTer35 frameshift 0.00000824●●●●●●
18. 58830606 c.163_164delTT p.Phe55TrpfsTer146 frameshift 0.00000824●●●●●●
19. 58837953 c.587_588insG p.Pro198ThrfsTer4 frameshift 0.00000824●●●●●●
20. 58724239 c.8_9insA p.Ser4LysfsTer37 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.