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

* 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.