UFD1L missense variants in ExAC

UFD1L gene summary
UFD1L variants in

The table below lists the UFD1L 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. 19455430 c.388C>G p.P130A missense 0.02330275●●●●●●
2. 19444380 c.626C>T p.S209L missense 0.00007376●●●●●●
3. 19444405 c.601G>A p.E201K missense 0.00004495●●●●●●
4. 19443234 c.736C>A p.P246T missense 0.00004120●●●●●●
5. 19463076 c.53G>A p.R18H missense 0.00003297●●●●●●
6. 19443225 c.745A>G p.I249V missense 0.00003297●●●●●●
7. 19459320 c.181A>G p.I61V missense 0.00002493●●●●●●
8. 19459280 c.221C>T p.S74L missense 0.00002481●●●●●●
9. 19442331 c.790A>C p.K264Q missense 0.00001665●●●●●●
10. 19459268 c.233C>T p.T78M missense 0.00001655●●●●●●
11. 19443212 c.758A>G p.D253G missense 0.00001650●●●●●●
12. 19443223 c.747C>G p.I249M missense 0.00001649●●●●●●
13. 19444145 c.643G>A p.D215N missense 0.00001649●●●●●●
14. 19463059 c.70C>T p.R24C missense 0.00001648●●●●●●
15. 19443235 c.735C>A p.S245R missense 0.00001648●●●●●●
16. 19444408 c.598C>T p.P200S missense 0.00001171●●●●●●
17. 19444407 c.599C>T p.P200L missense 0.00001147●●●●●●
18. 19462615 c.145C>G p.P49A missense 0.00000828●●●●●●
19. 19459296 c.205C>G p.L69V missense 0.00000827●●●●●●
20. 19459272 c.229A>G p.M77V missense 0.00000827●●●●●●
21. 19459275 c.226C>T p.R76C missense 0.00000827●●●●●●
22. 19459274 c.227G>A p.R76H missense 0.00000827●●●●●●
23. 19442297 c.824G>A p.R275H missense 0.00000826●●●●●●
24. 19442280 c.841G>A p.V281I missense 0.00000826●●●●●●
25. 19442289 c.832G>A p.V278I missense 0.00000826●●●●●●
26. 19442286 c.835A>C p.K279Q missense 0.00000826●●●●●●
27. 19443209 c.761T>C p.I254T missense 0.00000826●●●●●●
28. 19463013 c.116A>G p.D39G missense 0.00000825●●●●●●
29. 19443213 c.757G>T p.D253Y missense 0.00000825●●●●●●
30. 19444112 c.676C>T p.R226C missense 0.00000824●●●●●●
31. 19455489 c.329T>C p.V110A missense 0.00000824●●●●●●
32. 19452751 c.469G>C p.V157L missense 0.00000824●●●●●●
33. 19443246 c.724G>A p.V242I missense 0.00000824●●●●●●
34. 19438262 c.855A>T p.E285D missense 0.00000824●●●●●●
35. 19463082 c.47A>C p.Q16P missense 0.00000824●●●●●●
36. 19463111 c.18G>A p.M6I missense 0.00000824●●●●●●
37. 19438237 c.880T>C p.S294P missense 0.00000824●●●●●●
38. 19444133 c.655T>G p.Y219D missense 0.00000824●●●●●●
39. 19438215 c.902G>A p.R301H missense 0.00000824●●●●●●
40. 19463059 c.70C>G p.R24G missense 0.00000824●●●●●●
41. 19455397 c.421G>A p.V141I missense 0.00000824●●●●●●
42. 19455516 c.302A>G p.N101S missense 0.00000824●●●●●●
43. 19443273 c.697A>C p.N233H missense 0.00000824●●●●●●
44. 19463095 c.34C>T p.P12S missense 0.00000824●●●●●●
45. 19444135 c.653G>T p.G218V missense 0.00000824●●●●●●
46. 19438240 c.877T>C p.F293L missense 0.00000824●●●●●●
47. 19455447 c.371A>C p.K124T missense 0.00000824●●●●●●
48. 19444111 c.677G>A p.R226H missense 0.00000824●●●●●●
49. 19443240 c.730C>A p.P244T missense 0.00000824●●●●●●
50. 19445629 c.529G>T p.D177Y missense 0.00000824●●●●●●
51. 19463100 c.29C>G p.P10R missense 0.00000824●●●●●●
52. 19445629 c.529G>A p.D177N missense 0.00000824●●●●●●
53. 19438243 c.874G>A p.A292T missense 0.00000824●●●●●●
54. 19463077 c.52C>T p.R18C 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.