FXN missense variants in ExAC

FXN gene summary
FXN variants in

The table below lists the FXN missense 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. 71650721 c.23C>G p.A8G missense 0.00009827●●●●●●
11. 71650826 c.128G>A p.R43H missense 0.00009814●●●●●●
12. 71650836 c.138C>G p.I46M missense 0.00009814●●●●●●
13. 71650739 c.41C>A p.A14E missense 0.00009677●●●●●●
14. 71679858 c.389G>T p.G130V missense 0.00004950●●●●●●
15. 71687587 c.542C>G p.S181C missense 0.00004123●●●●●●
16. 71668072 c.280A>G p.T94A missense 0.00004122●●●●●●
17. 71679858 c.389G>C p.G130A missense 0.00003300●●●●●●
18. 71679869 c.400G>A p.V134I missense 0.00003298●●●●●●
19. 71687607 c.562G>A p.A188T missense 0.00002473●●●●●●
20. 71687539 c.494G>A p.R165H missense 0.00001655●●●●●●
21. 71687539 c.494G>C p.R165P missense 0.00001655●●●●●●
22. 71679884 c.415G>T p.D139Y missense 0.00001649●●●●●●
23. 71687640 c.595G>A p.D199N missense 0.00001648●●●●●●
24. 71668078 c.286G>A p.E96K missense 0.00001648●●●●●●
25. 71668087 c.295G>A p.A99T missense 0.00001648●●●●●●
26. 71668133 c.341C>T p.A114V missense 0.00001647●●●●●●
27. 71661387 c.252G>T p.L84F missense 0.00000896●●●●●●
28. 71661356 c.221A>G p.Y74C missense 0.00000845●●●●●●
29. 71661320 c.185T>C p.L62P missense 0.00000834●●●●●●
30. 71661335 c.200A>G p.N67S missense 0.00000834●●●●●●
31. 71661338 c.203T>G p.V68G missense 0.00000834●●●●●●
32. 71687557 c.512A>G p.K171R missense 0.00000826●●●●●●
33. 71668063 c.271G>C p.D91H missense 0.00000825●●●●●●
34. 71679928 c.459A>C p.Q153H missense 0.00000825●●●●●●
35. 71687574 c.529C>T p.H177Y missense 0.00000825●●●●●●
36. 71679929 c.460A>T p.I154F missense 0.00000825●●●●●●
37. 71679941 c.472T>G p.S158A missense 0.00000825●●●●●●
38. 71687577 c.532G>A p.D178N missense 0.00000825●●●●●●
39. 71687583 c.538G>A p.V180M missense 0.00000825●●●●●●
40. 71668148 c.356C>T p.T119M missense 0.00000824●●●●●●
41. 71679881 c.412G>A p.G138R missense 0.00000824●●●●●●
42. 71679915 c.446C>T p.T149M missense 0.00000824●●●●●●
43. 71687641 c.596A>G p.D199G missense 0.00000824●●●●●●
44. 71668142 c.350C>T p.P117L missense 0.00000824●●●●●●
45. 71687616 c.571A>G p.T191A missense 0.00000824●●●●●●
46. 71687622 c.577G>C p.A193P missense 0.00000824●●●●●●
47. 71687655 c.610G>C p.A204P missense 0.00000824●●●●●●
48. 71668145 c.353A>G p.Y118C missense 0.00000824●●●●●●
49. 71687631 c.586A>G p.T196A missense 0.00000824●●●●●●
50. 71679885 c.416A>T p.D139V missense 0.00000824●●●●●●
51. 71679873 c.404A>G p.K135R missense 0.00000824●●●●●●
52. 71687664 c.619G>A p.G207R 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.