NDRG4 splice variants in ExAC


The table below lists the NDRG4 splice 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 frequencyPopulations*
1. 58521764 c.132+10A>G splice site 0.01053767
2. 58538556 c.528+3G>A splice site 0.00513349
3. 58542916 c.933+3G>A splice site 0.00335698
4. 58540522 c.672+4A>G splice site 0.00328481
5. 58540525 c.672+7G>C splice site 0.00102366
6. 58538323 c.465C>T p.F155F splice site 0.00022343
7. 58538493 c.468G>A p.G156G splice site 0.00021421
8. 58541707 c.777-5C>G splice site 0.00019317
9. 58540523 c.672+5_672+6insG splice site 0.00018664
10. 58521761 c.132+7T>G splice site 0.00016423
11. 58521760 c.132+6T>C splice site 0.00016327
12. 58543055 c.934-3C>T splice site 0.00011543
13. 58540929 c.776+10G>C splice site 0.00010988
14. 58543200 c.970-5C>T splice site 0.00009897
15. 58521652 c.38-8C>T splice site 0.00008652
16. 58521759 c.132+5_132+6insT splice site 0.00008122
17. 58540523 c.672+5G>C splice site 0.00007547
18. 58540523 c.672+5delG splice site 0.00007465
19. 58528863 c.133-5C>T splice site 0.00006799
20. 58540380 c.615+3G>A splice site 0.00006643
21. 58540524 c.672+6G>T splice site 0.00003789
22. 58540523 c.672+5G>A splice site 0.00003773
23. 58540523 c.672+5G>T splice site 0.00003773
24. 58543201 c.970-4G>A splice site 0.00003299
25. 58543199 c.970-6C>T splice site 0.00002474
26. 58540923 c.776+4C>T splice site 0.00002117
27. 58528862 c.133-6C>T splice site 0.00001699
28. 58541776 c.833+8G>A splice site 0.00001655
29. 58538263 c.405G>A splice site 0.00001652
30. 58538185 c.404+7A>G splice site 0.00001649
31. 58540924 c.776+5G>A splice site 0.00001061
32. 58540923 c.776+4C>G splice site 0.00001058
33. 58541909 c.885+6T>A splice site 0.00000908
34. 58545318 c.1022-8G>A splice site 0.00000899
35. 58541852 c.834C>A splice site 0.00000850
36. 58528865 c.133-3T>C splice site 0.00000850
37. 58537696 c.178-6C>G splice site 0.00000837
38. 58537814 c.283+7G>A splice site 0.00000833
39. 58542921 c.933+8T>G splice site 0.00000828
40. 58538255 c.405-8G>A splice site 0.00000826
41. 58538257 c.405-6C>T splice site 0.00000826
42. 58538260 c.405-3C>T splice site 0.00000826
43. 58543101 c.969+8_969+9delTT splice site 0.00000825
44. 58538186 c.404+8C>T splice site 0.00000825
45. 58538560 c.528+7C>T splice site 0.00000824
46. 58538487 c.468-6C>T splice site 0.00000824
47. 58538488 c.468-5A>C splice site 0.00000824
48. 58543054 c.934-4G>A splice site 0.00000824
49. 58538493 c.468G>T 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.