UFD1L variants in ExAC

UFD1L gene summary
UFD1L variants in

The table below lists the UFD1L 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. 19466599 c.3+7G>A splice site 0.00007157●●●●●●
4. 19444405 c.601G>A p.E201K missense 0.00004495●●●●●●
5. 19455536 c.292-10T>C splice site 0.00004130●●●●●●
6. 19443234 c.736C>A p.P246T missense 0.00004120●●●●●●
7. 19444384 c.622_624delGAG p.Glu208del inframe 0.00003688●●●●●●
8. 19443225 c.745A>G p.I249V missense 0.00003297●●●●●●
9. 19463076 c.53G>A p.R18H missense 0.00003297●●●●●●
10. 19459320 c.181A>G p.I61V missense 0.00002493●●●●●●
11. 19459280 c.221C>T p.S74L missense 0.00002481●●●●●●
12. 19444110 c.678C>T splice site 0.00002473●●●●●●
13. 19444102 c.678+8C>T splice site 0.00002473●●●●●●
14. 19438270 c.850-3T>A splice site 0.00002472●●●●●●
15. 19442331 c.790A>C p.K264Q missense 0.00001665●●●●●●
16. 19459268 c.233C>T p.T78M missense 0.00001655●●●●●●
17. 19443212 c.758A>G p.D253G missense 0.00001650●●●●●●
18. 19463130 c.4-5T>C splice site 0.00001650●●●●●●
19. 19443223 c.747C>G p.I249M missense 0.00001649●●●●●●
20. 19444145 c.643G>A p.D215N missense 0.00001649●●●●●●
21. 19463059 c.70C>T p.R24C missense 0.00001648●●●●●●
22. 19443235 c.735C>A p.S245R missense 0.00001648●●●●●●
23. 19438230 c.887_889delAAG p.Glu296del inframe 0.00001647●●●●●●
24. 19444408 c.598C>T p.P200S missense 0.00001171●●●●●●
25. 19444407 c.599C>T p.P200L missense 0.00001147●●●●●●
26. 19466603 c.3+3A>G splice site 0.00001014●●●●●●
27. 19442356 c.768-3C>T splice site 0.00000851●●●●●●
28. 19459338 c.170-7T>C splice site 0.00000839●●●●●●
29. 19462615 c.145C>G p.P49A missense 0.00000828●●●●●●
30. 19443197 c.767+6T>C splice site 0.00000828●●●●●●
31. 19442261 c.849+11T>C splice site 0.00000827●●●●●●
32. 19459274 c.227G>A p.R76H missense 0.00000827●●●●●●
33. 19459296 c.205C>G p.L69V missense 0.00000827●●●●●●
34. 19459272 c.229A>G p.M77V missense 0.00000827●●●●●●
35. 19443199 c.767+4G>C splice site 0.00000827●●●●●●
36. 19459275 c.226C>T p.R76C missense 0.00000827●●●●●●
37. 19442280 c.841G>A p.V281I missense 0.00000826●●●●●●
38. 19443209 c.761T>C p.I254T missense 0.00000826●●●●●●
39. 19442286 c.835A>C p.K279Q missense 0.00000826●●●●●●
40. 19442289 c.832G>A p.V278I missense 0.00000826●●●●●●
41. 19442297 c.824G>A p.R275H missense 0.00000826●●●●●●
42. 19455536 c.292-10_292-8delTTC splice site 0.00000826●●●●●●
43. 19445666 c.496-4A>G splice site 0.00000825●●●●●●
44. 19463013 c.116A>G p.D39G missense 0.00000825●●●●●●
45. 19443213 c.757G>T p.D253Y missense 0.00000825●●●●●●
46. 19445669 c.496-7C>T splice site 0.00000825●●●●●●
47. 19438240 c.877T>C p.F293L missense 0.00000824●●●●●●
48. 19445629 c.529G>A p.D177N missense 0.00000824●●●●●●
49. 19444163 c.631-6T>C splice site 0.00000824●●●●●●
50. 19455516 c.302A>G p.N101S missense 0.00000824●●●●●●
51. 19443240 c.730C>A p.P244T missense 0.00000824●●●●●●
52. 19463100 c.29C>G p.P10R missense 0.00000824●●●●●●
53. 19463077 c.52C>T p.R18C missense 0.00000824●●●●●●
54. 19452802 c.423-5T>C splice site 0.00000824●●●●●●
55. 19444112 c.676C>T p.R226C missense 0.00000824●●●●●●
56. 19438243 c.874G>A p.A292T missense 0.00000824●●●●●●
57. 19452751 c.469G>C p.V157L missense 0.00000824●●●●●●
58. 19445591 c.564+3_564+4insTGACATTG splice site 0.00000824●●●●●●
59. 19443246 c.724G>A p.V242I missense 0.00000824●●●●●●
60. 19455393 c.422+3A>G splice site 0.00000824●●●●●●
61. 19444133 c.655T>G p.Y219D missense 0.00000824●●●●●●
62. 19463082 c.47A>C p.Q16P missense 0.00000824●●●●●●
63. 19438262 c.855A>T p.E285D missense 0.00000824●●●●●●
64. 19463059 c.70C>G p.R24G missense 0.00000824●●●●●●
65. 19445629 c.529G>T p.D177Y missense 0.00000824●●●●●●
66. 19455397 c.421G>A p.V141I missense 0.00000824●●●●●●
67. 19443273 c.697A>C p.N233H missense 0.00000824●●●●●●
68. 19438237 c.880T>C p.S294P missense 0.00000824●●●●●●
69. 19438215 c.902G>A p.R301H missense 0.00000824●●●●●●
70. 19444135 c.653G>T p.G218V missense 0.00000824●●●●●●
71. 19463095 c.34C>T p.P12S missense 0.00000824●●●●●●
72. 19455489 c.329T>C p.V110A missense 0.00000824●●●●●●
73. 19463111 c.18G>A p.M6I missense 0.00000824●●●●●●
74. 19455447 c.371A>C p.K124T missense 0.00000824●●●●●●
75. 19444111 c.677G>A p.R226H 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.