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