UNC45B truncating variants in ExAC

UNC45B gene summary
UNC45B variants in

The table below lists the UNC45B 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. 33482348 c.673C>T p.R225X nonsense 0.00003296●●●●●●
2. 33495327 c.1399A>T p.K467X nonsense 0.00002707●●●●●●
3. 33491186 c.1151+1G>A essential splice site 0.00001675●●●●●●
4. 33507696 c.2379+1G>T essential splice site 0.00001660●●●●●●
5. 33481712 c.591delG p.Ala198LeufsTer19 frameshift 0.00001652●●●●●●
6. 33496920 c.1517C>A p.S506X nonsense 0.00001650●●●●●●
7. 33479915 c.385C>T p.R129X nonsense 0.00001648●●●●●●
8. 33513525 c.2743C>T p.R915X nonsense 0.00001647●●●●●●
9. 33510579 c.2513_2514delTG p.Cys839ProfsTer42 frameshift 0.00000871●●●●●●
10. 33491187 c.1151+2T>C essential splice site 0.00000838●●●●●●
11. 33491186 c.1151+1G>T essential splice site 0.00000837●●●●●●
12. 33477114 c.253C>T p.Q85X nonsense 0.00000831●●●●●●
13. 33482314 c.640-1G>A essential splice site 0.00000829●●●●●●
14. 33475327 c.45_49delGCATT p.His16ProfsTer11 frameshift 0.00000826●●●●●●
15. 33475339 c.57delC p.Q20Rfs*14 frameshift 0.00000826●●●●●●
16. 33475340 c.58C>T p.Q20X nonsense 0.00000826●●●●●●
17. 33513328 c.2546G>A p.W849X nonsense 0.00000825●●●●●●
18. 33496925 c.1522G>T p.E508X nonsense 0.00000825●●●●●●
19. 33507623 c.2307C>A p.Y769X nonsense 0.00000824●●●●●●
20. 33513403 c.2621_2624delACCT p.Leu875TrpfsTer20 frameshift 0.00000824●●●●●●
21. 33486465 c.880C>T p.Q294X nonsense 0.00000824●●●●●●
22. 33513363 c.2581C>T p.Q861X nonsense 0.00000824●●●●●●
23. 33503021 c.1999C>T p.R667X nonsense 0.00000824●●●●●●
24. 33486507 c.922delC p.Arg309GlyfsTer20 frameshift 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.