EPHX2 truncating variants in ExAC

EPHX2 gene summary
EPHX2 variants in

The table below lists the EPHX2 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. 27361123 c.189G>A p.W63X nonsense 0.00015398●●●●●●
2. 27399009 c.1399C>T p.R467X nonsense 0.00013181●●●●●●
3. 27358529 c.186+2T>A essential splice site 0.00009928●●●●●●
4. 27364513 c.660+2T>C essential splice site 0.00007444●●●●●●
5. 27401345 c.1529G>A p.W510X nonsense 0.00003300●●●●●●
6. 27364387 c.538-2A>G essential splice site 0.00003300●●●●●●
7. 27398174 c.1379+1G>A essential splice site 0.00001655●●●●●●
8. 27362503 c.377G>A p.W126X nonsense 0.00001655●●●●●●
9. 27358456 c.115delG p.Asp39MetfsTer16 frameshift 0.00001650●●●●●●
10. 27401296 c.1480G>T p.E494X nonsense 0.00001649●●●●●●
11. 27398069 c.1277-2A>G essential splice site 0.00001649●●●●●●
12. 27369428 c.735+1G>T essential splice site 0.00001647●●●●●●
13. 27361119 c.187-2A>G essential splice site 0.00001494●●●●●●
14. 27375563 c.919_920insA p.Tyr308IlefsTer8 frameshift 0.00000874●●●●●●
15. 27375566 c.922_925delTATT p.Tyr308AlafsTer10 frameshift 0.00000870●●●●●●
16. 27362472 c.347-1G>A essential splice site 0.00000841●●●●●●
17. 27379938 c.973-2A>G essential splice site 0.00000835●●●●●●
18. 27361271 c.337_344delAGGAAGAA p.Lys114IlefsTer16 frameshift 0.00000834●●●●●●
19. 27361243 c.309delC p.Met105CysfsTer35 frameshift 0.00000831●●●●●●
20. 27380001 c.1034_1035delCT p.Phe347LeufsTer35 frameshift 0.00000827●●●●●●
21. 27398069 c.1277-2A>C essential splice site 0.00000825●●●●●●
22. 27364388 c.538-1G>C essential splice site 0.00000825●●●●●●
23. 27394299 c.1171-2A>G essential splice site 0.00000824●●●●●●
24. 27373884 c.879_880insA p.Gly295ArgfsTer21 frameshift 0.00000824●●●●●●
25. 27369428 c.735+1G>A essential splice site 0.00000824●●●●●●
26. 27394299 c.1171-2A>C essential splice site 0.00000824●●●●●●
27. 27382928 c.1108delT p.Ser370ProfsTer32 frameshift 0.00000824●●●●●●
28. 27401329 c.1513C>T p.Q505X nonsense 0.00000824●●●●●●
29. 27382929 c.1109delC p.Pro371LeufsTer31 frameshift 0.00000824●●●●●●
30. 27373836 c.832-1G>A 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.