LOX missense variants in ExAC

LOX gene summary
LOX variants in

The table below lists the LOX 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. 121413208 c.473G>A p.R158Q missense 0.17280773●●●●●●
2. 121413205 c.476C>A p.P159Q missense 0.00554602●●●●●●
3. 121413286 c.395C>T p.S132F missense 0.00075493●●●●●●
4. 121413586 c.95C>T p.P32L missense 0.00049160●●●●●●
5. 121413373 c.308G>C p.R103P missense 0.00044333●●●●●●
6. 121413446 c.235G>A p.A79T missense 0.00038218●●●●●●
7. 121413359 c.322G>A p.G108S missense 0.00028711●●●●●●
8. 121413365 c.316A>C p.T106P missense 0.00014969●●●●●●
9. 121413647 c.34C>T p.P12S missense 0.00014169●●●●●●
10. 121413293 c.388T>C p.S130P missense 0.00011014●●●●●●
11. 121413528 c.153C>A p.N51K missense 0.00010066●●●●●●
12. 121409814 c.929A>G p.N310S missense 0.00009885●●●●●●
13. 121409713 c.1030A>G p.T344A missense 0.00009076●●●●●●
14. 121413341 c.340G>T p.A114S missense 0.00008777●●●●●●
15. 121411217 c.760G>A p.V254I missense 0.00008267●●●●●●
16. 121413608 c.73G>A p.A25T missense 0.00008008●●●●●●
17. 121413340 c.341C>A p.A114D missense 0.00007599●●●●●●
18. 121413418 c.263G>A p.R88H missense 0.00006972●●●●●●
19. 121413316 c.365G>A p.R122H missense 0.00006770●●●●●●
20. 121413631 c.50C>A p.A17E missense 0.00006051●●●●●●
21. 121411236 c.741T>G p.S247R missense 0.00005868●●●●●●
22. 121413149 c.532T>C p.S178P missense 0.00005811●●●●●●
23. 121413370 c.311C>A p.T104K missense 0.00005684●●●●●●
24. 121413470 c.211G>A p.D71N missense 0.00005279●●●●●●
25. 121413466 c.215C>G p.P72R missense 0.00005217●●●●●●
26. 121413468 c.213C>G p.D71E missense 0.00005159●●●●●●
27. 121413518 c.163T>G p.F55V missense 0.00005139●●●●●●
28. 121413518 c.163T>C p.F55L missense 0.00005139●●●●●●
29. 121413560 c.121G>A p.A41T missense 0.00005101●●●●●●
30. 121413527 c.154G>C p.G52R missense 0.00005058●●●●●●
31. 121413463 c.218G>A p.G73D missense 0.00005034●●●●●●
32. 121413546 c.135G>T p.Q45H missense 0.00004941●●●●●●
33. 121413421 c.260C>T p.P87L missense 0.00004848●●●●●●
34. 121413575 c.106C>T p.P36S missense 0.00004833●●●●●●
35. 121413581 c.100G>C p.E34Q missense 0.00004760●●●●●●
36. 121413299 c.382G>A p.G128S missense 0.00004631●●●●●●
37. 121413584 c.97C>T p.R33C missense 0.00004621●●●●●●
38. 121413595 c.86A>G p.Q29R missense 0.00004337●●●●●●
39. 121413412 c.269C>T p.P90L missense 0.00004304●●●●●●
40. 121405773 c.1222T>C p.Y408H missense 0.00004128●●●●●●
41. 121413634 c.47G>C p.C16S missense 0.00003633●●●●●●
42. 121413347 c.334G>C p.V112L missense 0.00003433●●●●●●
43. 121413389 c.292C>T p.R98C missense 0.00003397●●●●●●
44. 121413215 c.466A>T p.N156Y missense 0.00003382●●●●●●
45. 121413379 c.302C>T p.A101V missense 0.00003124●●●●●●
46. 121413617 c.64G>A p.A22T missense 0.00003089●●●●●●
47. 121413650 c.31G>C p.G11R missense 0.00002717●●●●●●
48. 121413361 c.320C>T p.A107V missense 0.00002633●●●●●●
49. 121413218 c.463A>G p.S155G missense 0.00002539●●●●●●
50. 121413074 c.607T>C p.Y203H missense 0.00002508●●●●●●
51. 121402443 c.1249T>C p.Y417H missense 0.00002497●●●●●●
52. 121412694 c.634C>A p.L212I missense 0.00002494●●●●●●
53. 121412646 c.682G>T p.V228L missense 0.00002475●●●●●●
54. 121409819 c.924T>G p.D308E missense 0.00002471●●●●●●
55. 121413422 c.259C>T p.P87S missense 0.00002464●●●●●●
56. 121413677 c.4C>T p.R2C missense 0.00002380●●●●●●
57. 121413416 c.265A>T p.T89S missense 0.00002242●●●●●●
58. 121413628 c.53T>G p.L18R missense 0.00002187●●●●●●
59. 121413631 c.50C>G p.A17G missense 0.00002017●●●●●●
60. 121413403 c.278T>C p.L93P missense 0.00001919●●●●●●
61. 121413242 c.439G>T p.A147S missense 0.00001723●●●●●●
62. 121413221 c.460C>T p.L154F missense 0.00001695●●●●●●
63. 121413193 c.488T>A p.V163E missense 0.00001681●●●●●●
64. 121413188 c.493G>C p.G165R missense 0.00001674●●●●●●
65. 121413160 c.521C>A p.P174H missense 0.00001661●●●●●●
66. 121413125 c.556T>C p.Y186H missense 0.00001660●●●●●●
67. 121405776 c.1219G>A p.A407T missense 0.00001651●●●●●●
68. 121405805 c.1190G>A p.R397H missense 0.00001650●●●●●●
69. 121411137 c.840C>A p.S280R missense 0.00001650●●●●●●
70. 121405806 c.1189C>T p.R397C missense 0.00001650●●●●●●
71. 121412631 c.697A>G p.M233V missense 0.00001649●●●●●●
72. 121409758 c.985T>A p.S329T missense 0.00001647●●●●●●
73. 121409757 c.986C>A p.S329Y missense 0.00001647●●●●●●
74. 121413383 c.298G>C p.A100P missense 0.00001595●●●●●●
75. 121413382 c.299C>G p.A100G missense 0.00001569●●●●●●
76. 121413374 c.307C>G p.R103G missense 0.00001482●●●●●●
77. 121413646 c.35C>G p.P12R missense 0.00001435●●●●●●
78. 121413649 c.32G>C p.G11A missense 0.00001373●●●●●●
79. 121413649 c.32G>A p.G11E missense 0.00001373●●●●●●
80. 121413664 c.17C>T p.T6I missense 0.00001236●●●●●●
81. 121413668 c.13T>C p.W5R missense 0.00001216●●●●●●
82. 121413317 c.364C>T p.R122C missense 0.00000971●●●●●●
83. 121413311 c.370T>G p.W124G missense 0.00000953●●●●●●
84. 121413298 c.383G>A p.G128D missense 0.00000924●●●●●●
85. 121413280 c.401C>T p.A134V missense 0.00000904●●●●●●
86. 121406194 c.1126C>G p.L376V missense 0.00000888●●●●●●
87. 121413265 c.416C>T p.A139V missense 0.00000884●●●●●●
88. 121413242 c.439G>A p.A147T missense 0.00000862●●●●●●
89. 121406277 c.1043G>A p.S348N missense 0.00000860●●●●●●
90. 121413241 c.440C>A p.A147E missense 0.00000859●●●●●●
91. 121413236 c.445G>A p.G149R missense 0.00000856●●●●●●
92. 121413227 c.454C>G p.P152A missense 0.00000850●●●●●●
93. 121406218 c.1102G>A p.D368N missense 0.00000849●●●●●●
94. 121413199 c.482G>A p.S161N missense 0.00000847●●●●●●
95. 121413215 c.466A>G p.N156D missense 0.00000846●●●●●●
96. 121406259 c.1061C>T p.T354I missense 0.00000845●●●●●●
97. 121406223 c.1097T>C p.I366T missense 0.00000844●●●●●●
98. 121413190 c.491A>T p.D164V missense 0.00000839●●●●●●
99. 121411235 c.742A>G p.T248A missense 0.00000838●●●●●●
100. 121413187 c.494G>A p.G165D missense 0.00000837●●●●●●
101. 121413182 c.499G>T p.V167L missense 0.00000835●●●●●●
102. 121413082 c.599G>A p.R200Q missense 0.00000834●●●●●●
103. 121413086 c.595T>A p.Y199N missense 0.00000833●●●●●●
104. 121402442 c.1250A>G p.Y417C missense 0.00000832●●●●●●
105. 121413161 c.520C>G p.P174A missense 0.00000831●●●●●●
106. 121413169 c.512C>T p.P171L missense 0.00000831●●●●●●
107. 121412694 c.634C>T p.L212F missense 0.00000831●●●●●●
108. 121413133 c.548A>T p.Y183F missense 0.00000830●●●●●●
109. 121413137 c.544C>G p.P182A missense 0.00000830●●●●●●
110. 121413124 c.557A>G p.Y186C missense 0.00000830●●●●●●
111. 121411226 c.751A>G p.R251G missense 0.00000830●●●●●●
112. 121405748 c.1247C>T p.P416L missense 0.00000828●●●●●●
113. 121405860 c.1135A>C p.S379R missense 0.00000828●●●●●●
114. 121405748 c.1247C>G p.P416R missense 0.00000828●●●●●●
115. 121412681 c.647T>A p.V216E missense 0.00000828●●●●●●
116. 121405763 c.1232G>A p.G411D missense 0.00000826●●●●●●
117. 121405763 c.1232G>C p.G411A missense 0.00000826●●●●●●
118. 121411130 c.847A>G p.R283G missense 0.00000826●●●●●●
119. 121412633 c.695C>A p.S232Y missense 0.00000825●●●●●●
120. 121405829 c.1166C>G p.S389C missense 0.00000825●●●●●●
121. 121405788 c.1207A>G p.T403A missense 0.00000825●●●●●●
122. 121411196 c.781G>C p.V261L missense 0.00000825●●●●●●
123. 121411196 c.781G>T p.V261L missense 0.00000825●●●●●●
124. 121405794 c.1201C>T p.R401C missense 0.00000825●●●●●●
125. 121409862 c.881A>G p.H294R missense 0.00000825●●●●●●
126. 121409716 c.1027C>T p.H343Y missense 0.00000825●●●●●●
127. 121405782 c.1213C>T p.H405Y missense 0.00000825●●●●●●
128. 121411208 c.769T>C p.Y257H missense 0.00000825●●●●●●
129. 121405787 c.1208C>T p.T403I missense 0.00000825●●●●●●
130. 121411141 c.836C>T p.P279L missense 0.00000825●●●●●●
131. 121409844 c.899A>G p.E300G missense 0.00000824●●●●●●
132. 121409785 c.958A>G p.K320E 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.