TAZ variants in ExAC

TAZ gene summary
TAZ variants in DCM

The table below lists the TAZ 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. 153642450 c.383T>C p.F128S missense 0.00660037●●●●●●
2. 153648045 c.543G>A splice site 0.00012573●●●●●●
3. 153649058 c.761C>T p.A254V missense 0.00012549●●●●●●
4. 153640193 c.13G>T p.V5L missense 0.00006696●●●●●●
5. 153640198 c.18G>T p.K6N missense 0.00006114●●●●●●
6. 153648578 c.674C>T p.P225L missense 0.00005699●●●●●●
7. 153641865 c.331C>T p.H111Y missense 0.00004581●●●●●●
8. 153649243 c.779T>G p.V260G missense 0.00003611●●●●●●
9. 153640192 c.12C>A p.H4Q missense 0.00003451●●●●●●
10. 153648064 c.562G>A p.E188K missense 0.00003435●●●●●●
11. 153640200 c.20G>C p.W7S missense 0.00002956●●●●●●
12. 153640201 c.21G>T p.W7C missense 0.00002939●●●●●●
13. 153640202 c.22C>T p.P8S missense 0.00002893●●●●●●
14. 153640557 c.238+6C>T splice site 0.00002838●●●●●●
15. 153641558 c.253C>T p.R85C missense 0.00002326●●●●●●
16. 153649080 c.777+6T>C splice site 0.00002289●●●●●●
17. 153649048 c.751C>T p.R251W missense 0.00002281●●●●●●
18. 153648393 c.606G>C p.E202D missense 0.00002279●●●●●●
19. 153648364 c.584-7T>C splice site 0.00002279●●●●●●
20. 153640447 c.134A>G p.H45R missense 0.00001537●●●●●●
21. 153640417 c.110-6C>T splice site 0.00001485●●●●●●
22. 153640417 c.110-6C>G splice site 0.00001485●●●●●●
23. 153640418 c.110-5G>T splice site 0.00001483●●●●●●
24. 153642523 c.456G>C p.E152D missense 0.00001364●●●●●●
25. 153642509 c.442G>A p.G148R missense 0.00001306●●●●●●
26. 153642504 c.437G>T p.G146V missense 0.00001285●●●●●●
27. 153649338 c.874A>G p.R292G missense 0.00001264●●●●●●
28. 153642486 c.419_422delCAGG p.Arg142ThrfsTer41 frameshift 0.00001253●●●●●●
29. 153642474 c.407G>T p.G136V missense 0.00001239●●●●●●
30. 153649325 c.861C>A p.H287Q missense 0.00001217●●●●●●
31. 153649314 c.850C>T p.L284F missense 0.00001197●●●●●●
32. 153641559 c.254G>A p.R85H missense 0.00001163●●●●●●
33. 153641545 c.240G>A splice site 0.00001162●●●●●●
34. 153648091 c.583+6G>T splice site 0.00001150●●●●●●
35. 153647875 c.461-7C>T splice site 0.00001145●●●●●●
36. 153648041 c.542-3C>T splice site 0.00001143●●●●●●
37. 153649060 c.763G>A p.E255K missense 0.00001141●●●●●●
38. 153647970 c.541+8G>A splice site 0.00001141●●●●●●
39. 153649055 c.758G>A p.R253Q missense 0.00001141●●●●●●
40. 153648586 c.682T>C p.F228L missense 0.00001140●●●●●●
41. 153648561 c.657C>G p.D219E missense 0.00001140●●●●●●
42. 153648613 c.699+10G>A splice site 0.00001140●●●●●●
43. 153648992 c.700-5C>T splice site 0.00001140●●●●●●
44. 153648593 c.689G>A p.R230H missense 0.00001140●●●●●●
45. 153648571 c.667A>C p.N223H missense 0.00001140●●●●●●
46. 153648583 c.679T>C p.Y227H missense 0.00001140●●●●●●
47. 153648441 c.646+8T>C splice site 0.00001140●●●●●●
48. 153648380 c.593G>A p.R198H missense 0.00001139●●●●●●
49. 153648415 c.628C>G p.L210V missense 0.00001139●●●●●●

* 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.