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

* 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.