ABCC9 truncating variants in ExAC

ABCC9 gene summary
ABCC9 variants in DCM

The table below lists the ABCC9 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. 22005391 c.2554C>T p.Q852X nonsense 0.00002474●●●●●●
2. 21981908 c.3653G>A p.W1218X nonsense 0.00000824●●●●●●
3. 22012582 c.2443G>T p.G815X nonsense 0.00001648●●●●●●
4. 22059149 c.1529G>A p.W510X nonsense 0.00000836●●●●●●
5. 22063805 c.1119C>G p.Y373X nonsense 0.00000825●●●●●●
6. 22069879 c.565C>T p.R189X nonsense 0.00013234●●●●●●
7. 22086831 c.169C>T p.Q57X nonsense 0.00000824●●●●●●
8. 22015989 c.2238-1G>A essential splice site 0.00162086●●●●●●
9. 22063090 c.1320+1G>A essential splice site 0.00005814●●●●●●
10. 22089465 c.142+2T>C essential splice site 0.00000902●●●●●●
11. 21962890 c.4212-1G>T essential splice site 0.00000835●●●●●●
12. 21970119 c.3892+2T>C essential splice site 0.00000827●●●●●●
13. 21970242 c.3772-1G>A essential splice site 0.00000830●●●●●●
14. 21971082 c.3771+2T>G essential splice site 0.00000824●●●●●●
15. 22005157 c.2644-1G>C essential splice site 0.00000829●●●●●●
16. 22012601 c.2425-1G>T essential splice site 0.00000824●●●●●●
17. 22017371 c.2237+2T>C essential splice site 0.00000830●●●●●●
18. 22048252 c.1619-3_1619-2delCA essential splice site 0.00002494●●●●●●
19. 22069869 c.573+2T>G essential splice site 0.00000832●●●●●●
20. 22086715 c.284+1G>A essential splice site 0.00002475●●●●●●
21. 21958187 c.4571_4572delTA p.Leu1524CysfsTer4 frameshift 0.00064416●●●●●●
22. 21958187 c.4571_4572dupTA p.Val1525Ter frameshift 0.00000826●●●●●●
23. 21960374 c.4355_4356delGA p.Gly1452AlafsTer22 frameshift 0.00000824●●●●●●
24. 21971182 c.3673_3674insT p.Tyr1225LeufsTer16 frameshift 0.00000825●●●●●●
25. 21998616 c.3017delC p.Ser1006TrpfsTer4 frameshift 0.00000825●●●●●●
26. 22005032 c.2768delA p.Lys923ArgfsTer10 frameshift 0.00000828●●●●●●
27. 22005094 c.2706delA p.Asp903MetfsTer12 frameshift 0.00000829●●●●●●
28. 22025653 c.2104delA p.Met702Ter frameshift 0.00000824●●●●●●
29. 22040843 c.1828_1829delTT p.Leu610GlufsTer2 frameshift 0.00000829●●●●●●
30. 22048210 c.1658dupC p.Thr554TyrfsTer54 frameshift 0.00000832●●●●●●
31. 22063138 c.1273_1274delAT p.Met425ValfsTer8 frameshift 0.00000825●●●●●●
32. 22065869 c.948_949delTT p.Cys317TyrfsTer10 frameshift 0.00000825●●●●●●
33. 22086828 c.172dupA p.Ile58AsnfsTer13 frameshift 0.00000824●●●●●●
34. 22089608 c.1delA p.Met1? frameshift 0.00000830●●●●●●

* 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.