ABCG5 truncating variants in ExAC

ABCG5 gene summary
ABCG5 variants in

The table below lists the ABCG5 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. 44050063 c.1336C>T p.R446X nonsense 0.00015330●●●●●●
2. 44065755 c.64C>T p.Q22X nonsense 0.00010248●●●●●●
3. 44053568 c.727C>T p.R243X nonsense 0.00003295●●●●●●
4. 44041615 c.1762+1G>A essential splice site 0.00002499●●●●●●
5. 44051154 c.1222C>T p.R408X nonsense 0.00002471●●●●●●
6. 44053544 c.751C>T p.Q251X nonsense 0.00002471●●●●●●
7. 44065684 c.135C>G p.Y45X nonsense 0.00001850●●●●●●
8. 44055121 c.634+1G>C essential splice site 0.00001677●●●●●●
9. 44055255 c.502-1G>A essential splice site 0.00001658●●●●●●
10. 44055181 c.575dupG p.Ile193HisfsTer5 frameshift 0.00001656●●●●●●
11. 44055209 c.547C>T p.R183X nonsense 0.00001652●●●●●●
12. 44051130 c.1246dupA p.Ile416AsnfsTer80 frameshift 0.00001648●●●●●●
13. 44052158 c.775-1G>A essential splice site 0.00000864●●●●●●
14. 44050075 c.1325-1G>T essential splice site 0.00000859●●●●●●
15. 44041730 c.1650-2A>T essential splice site 0.00000858●●●●●●
16. 44047211 c.1492C>T p.R498X nonsense 0.00000846●●●●●●
17. 44040325 c.1886C>G p.S629X nonsense 0.00000844●●●●●●
18. 44050039 c.1360C>T p.Q454X nonsense 0.00000839●●●●●●
19. 44055160 c.596_597delGC p.R199Pfs*13 frameshift 0.00000830●●●●●●
20. 44049936 c.1463G>A p.W488X nonsense 0.00000828●●●●●●
21. 44051051 c.1324+1G>T essential splice site 0.00000828●●●●●●
22. 44049985 c.1414delC p.Leu472SerfsTer9 frameshift 0.00000828●●●●●●
23. 44041643 c.1735G>T p.E579X nonsense 0.00000828●●●●●●
24. 44055181 c.575delG p.Gly192AlafsTer35 frameshift 0.00000828●●●●●●
25. 44051053 c.1323_1324+2delGTGT essential splice site 0.00000828●●●●●●
26. 44052027 c.904+1G>A essential splice site 0.00000827●●●●●●
27. 44049954 c.1445delT p.Phe482SerfsTer30 frameshift 0.00000827●●●●●●
28. 44051238 c.1138delG p.Val380Ter frameshift 0.00000825●●●●●●
29. 44065009 c.229G>T p.E77X nonsense 0.00000824●●●●●●
30. 44064975 c.263C>G p.S88X nonsense 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.