FXN variants in ExAC

FXN gene summary
FXN variants in

The table below lists the FXN 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. 71661361 c.226A>G p.M76V missense 0.00461648●●●●●●
2. 71650766 c.68C>T p.T23I missense 0.00134125●●●●●●
3. 71687671 c.626A>G p.D209G missense 0.00102199●●●●●●
4. 71661314 c.179G>A p.R60H missense 0.00030873●●●●●●
5. 71668091 c.299A>C p.E100A missense 0.00027188●●●●●●
6. 71661376 c.241T>A p.S81T missense 0.00024211●●●●●●
7. 71679936 c.467T>C p.L156P missense 0.00017324●●●●●●
8. 71661313 c.178C>T p.R60C missense 0.00010852●●●●●●
9. 71650701 c.3G>T p.M1I missense 0.00010337●●●●●●
10. 71650868 c.165+5G>A splice site 0.00010124●●●●●●
11. 71650721 c.23C>G p.A8G missense 0.00009827●●●●●●
12. 71650836 c.138C>G p.I46M missense 0.00009814●●●●●●
13. 71650826 c.128G>A p.R43H missense 0.00009814●●●●●●
14. 71650739 c.41C>A p.A14E missense 0.00009677●●●●●●
15. 71650752 c.54_55insG p.Ala19GlyfsTer74 frameshift 0.00009372●●●●●●
16. 71668183 c.384+7C>T splice site 0.00007414●●●●●●
17. 71679858 c.389G>T p.G130V missense 0.00004950●●●●●●
18. 71668184 c.384+8T>C splice site 0.00004943●●●●●●
19. 71687587 c.542C>G p.S181C missense 0.00004123●●●●●●
20. 71668072 c.280A>G p.T94A missense 0.00004122●●●●●●
21. 71679858 c.389G>C p.G130A missense 0.00003300●●●●●●
22. 71679869 c.400G>A p.V134I missense 0.00003298●●●●●●
23. 71687607 c.562G>A p.A188T missense 0.00002473●●●●●●
24. 71668182 c.384+6T>G splice site 0.00002471●●●●●●
25. 71668051 c.264-5T>C splice site 0.00001656●●●●●●
26. 71679847 c.385-7C>T splice site 0.00001655●●●●●●
27. 71687539 c.494G>C p.R165P missense 0.00001655●●●●●●
28. 71687539 c.494G>A p.R165H missense 0.00001655●●●●●●
29. 71679884 c.415G>T p.D139Y missense 0.00001649●●●●●●
30. 71668087 c.295G>A p.A99T missense 0.00001648●●●●●●
31. 71687640 c.595G>A p.D199N missense 0.00001648●●●●●●
32. 71668078 c.286G>A p.E96K missense 0.00001648●●●●●●
33. 71668133 c.341C>T p.A114V missense 0.00001647●●●●●●
34. 71661387 c.252G>T p.L84F missense 0.00000896●●●●●●
35. 71661356 c.221A>G p.Y74C missense 0.00000845●●●●●●
36. 71661320 c.185T>C p.L62P missense 0.00000834●●●●●●
37. 71661338 c.203T>G p.V68G missense 0.00000834●●●●●●
38. 71661335 c.200A>G p.N67S missense 0.00000834●●●●●●
39. 71668048 c.264-8C>T splice site 0.00000829●●●●●●
40. 71687521 c.483-7C>T splice site 0.00000829●●●●●●
41. 71679954 c.482+3A>G splice site 0.00000827●●●●●●
42. 71687557 c.512A>G p.K171R missense 0.00000826●●●●●●
43. 71668063 c.271G>C p.D91H missense 0.00000825●●●●●●
44. 71679929 c.460A>T p.I154F missense 0.00000825●●●●●●
45. 71687583 c.538G>A p.V180M missense 0.00000825●●●●●●
46. 71679928 c.459A>C p.Q153H missense 0.00000825●●●●●●
47. 71687574 c.529C>T p.H177Y missense 0.00000825●●●●●●
48. 71679941 c.472T>G p.S158A missense 0.00000825●●●●●●
49. 71687577 c.532G>A p.D178N missense 0.00000825●●●●●●
50. 71687631 c.586A>G p.T196A missense 0.00000824●●●●●●
51. 71679885 c.416A>T p.D139V missense 0.00000824●●●●●●
52. 71687664 c.619G>A p.G207R missense 0.00000824●●●●●●
53. 71679873 c.404A>G p.K135R missense 0.00000824●●●●●●
54. 71668148 c.356C>T p.T119M missense 0.00000824●●●●●●
55. 71679915 c.446C>T p.T149M missense 0.00000824●●●●●●
56. 71668180 c.384+4C>T splice site 0.00000824●●●●●●
57. 71687616 c.571A>G p.T191A missense 0.00000824●●●●●●
58. 71679881 c.412G>A p.G138R missense 0.00000824●●●●●●
59. 71687641 c.596A>G p.D199G missense 0.00000824●●●●●●
60. 71668142 c.350C>T p.P117L missense 0.00000824●●●●●●
61. 71687622 c.577G>C p.A193P missense 0.00000824●●●●●●
62. 71687655 c.610G>C p.A204P missense 0.00000824●●●●●●
63. 71668145 c.353A>G p.Y118C missense 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.