LOX variants in ExAC

LOX gene summary
LOX variants in

The table below lists the LOX 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. 121412582 c.740+6G>A splice site 0.00155380●●●●●●
4. 121413286 c.395C>T p.S132F missense 0.00075493●●●●●●
5. 121413040 c.631+10C>T splice site 0.00051910●●●●●●
6. 121413586 c.95C>T p.P32L missense 0.00049160●●●●●●
7. 121413373 c.308G>C p.R103P missense 0.00044333●●●●●●
8. 121413446 c.235G>A p.A79T missense 0.00038218●●●●●●
9. 121413359 c.322G>A p.G108S missense 0.00028711●●●●●●
10. 121412584 c.740+4C>T splice site 0.00021480●●●●●●
11. 121413365 c.316A>C p.T106P missense 0.00014969●●●●●●
12. 121413647 c.34C>T p.P12S missense 0.00014169●●●●●●
13. 121413293 c.388T>C p.S130P missense 0.00011014●●●●●●
14. 121413528 c.153C>A p.N51K missense 0.00010066●●●●●●
15. 121409814 c.929A>G p.N310S missense 0.00009885●●●●●●
16. 121409713 c.1030A>G p.T344A missense 0.00009076●●●●●●
17. 121413341 c.340G>T p.A114S missense 0.00008777●●●●●●
18. 121411217 c.760G>A p.V254I missense 0.00008267●●●●●●
19. 121413608 c.73G>A p.A25T missense 0.00008008●●●●●●
20. 121413340 c.341C>A p.A114D missense 0.00007599●●●●●●
21. 121413418 c.263G>A p.R88H missense 0.00006972●●●●●●
22. 121413316 c.365G>A p.R122H missense 0.00006770●●●●●●
23. 121409704 c.1035+4T>C splice site 0.00006608●●●●●●
24. 121413631 c.50C>A p.A17E missense 0.00006051●●●●●●
25. 121411236 c.741T>G p.S247R missense 0.00005868●●●●●●
26. 121413149 c.532T>C p.S178P missense 0.00005811●●●●●●
27. 121413370 c.311C>A p.T104K missense 0.00005684●●●●●●
28. 121413470 c.211G>A p.D71N missense 0.00005279●●●●●●
29. 121413466 c.215C>G p.P72R missense 0.00005217●●●●●●
30. 121413468 c.213C>G p.D71E missense 0.00005159●●●●●●
31. 121413518 c.163T>G p.F55V missense 0.00005139●●●●●●
32. 121413518 c.163T>C p.F55L missense 0.00005139●●●●●●
33. 121413560 c.121G>A p.A41T missense 0.00005101●●●●●●
34. 121413527 c.154G>C p.G52R missense 0.00005058●●●●●●
35. 121413463 c.218G>A p.G73D missense 0.00005034●●●●●●
36. 121413546 c.135G>T p.Q45H missense 0.00004941●●●●●●
37. 121413421 c.260C>T p.P87L missense 0.00004848●●●●●●
38. 121413575 c.106C>T p.P36S missense 0.00004833●●●●●●
39. 121413581 c.100G>C p.E34Q missense 0.00004760●●●●●●
40. 121413299 c.382G>A p.G128S missense 0.00004631●●●●●●
41. 121413584 c.97C>T p.R33C missense 0.00004621●●●●●●
42. 121413595 c.86A>G p.Q29R missense 0.00004337●●●●●●
43. 121413412 c.269C>T p.P90L missense 0.00004304●●●●●●
44. 121405773 c.1222T>C p.Y408H missense 0.00004128●●●●●●
45. 121413634 c.47G>C p.C16S missense 0.00003633●●●●●●
46. 121413347 c.334G>C p.V112L missense 0.00003433●●●●●●
47. 121413389 c.292C>T p.R98C missense 0.00003397●●●●●●
48. 121413215 c.466A>T p.N156Y missense 0.00003382●●●●●●
49. 121413379 c.302C>T p.A101V missense 0.00003124●●●●●●
50. 121413617 c.64G>A p.A22T missense 0.00003089●●●●●●
51. 121406182 c.1131+7A>G splice site 0.00002818●●●●●●
52. 121413650 c.31G>C p.G11R missense 0.00002717●●●●●●
53. 121413361 c.320C>T p.A107V missense 0.00002633●●●●●●
54. 121413218 c.463A>G p.S155G missense 0.00002539●●●●●●
55. 121413074 c.607T>C p.Y203H missense 0.00002508●●●●●●
56. 121402443 c.1249T>C p.Y417H missense 0.00002497●●●●●●
57. 121412694 c.634C>A p.L212I missense 0.00002494●●●●●●
58. 121412646 c.682G>T p.V228L missense 0.00002475●●●●●●
59. 121409819 c.924T>G p.D308E missense 0.00002471●●●●●●
60. 121413422 c.259C>T p.P87S missense 0.00002464●●●●●●
61. 121413677 c.4C>T p.R2C missense 0.00002380●●●●●●
62. 121413416 c.265A>T p.T89S missense 0.00002242●●●●●●
63. 121413628 c.53T>G p.L18R missense 0.00002187●●●●●●
64. 121413631 c.50C>G p.A17G missense 0.00002017●●●●●●
65. 121413403 c.278T>C p.L93P missense 0.00001919●●●●●●
66. 121413242 c.439G>T p.A147S missense 0.00001723●●●●●●
67. 121413221 c.460C>T p.L154F missense 0.00001695●●●●●●
68. 121411093 c.878+6T>C splice site 0.00001688●●●●●●
69. 121411239 c.741-3C>T splice site 0.00001685●●●●●●
70. 121413193 c.488T>A p.V163E missense 0.00001681●●●●●●
71. 121413188 c.493G>C p.G165R missense 0.00001674●●●●●●
72. 121413160 c.521C>A p.P174H missense 0.00001661●●●●●●
73. 121413125 c.556T>C p.Y186H missense 0.00001660●●●●●●
74. 121412582 c.740+6G>C splice site 0.00001653●●●●●●
75. 121409702 c.1035+6T>C splice site 0.00001652●●●●●●
76. 121405776 c.1219G>A p.A407T missense 0.00001651●●●●●●
77. 121411137 c.840C>A p.S280R missense 0.00001650●●●●●●
78. 121405806 c.1189C>T p.R397C missense 0.00001650●●●●●●
79. 121405805 c.1190G>A p.R397H missense 0.00001650●●●●●●
80. 121412631 c.697A>G p.M233V missense 0.00001649●●●●●●
81. 121409757 c.986C>A p.S329Y missense 0.00001647●●●●●●
82. 121409758 c.985T>A p.S329T missense 0.00001647●●●●●●
83. 121413383 c.298G>C p.A100P missense 0.00001595●●●●●●
84. 121413641 c.40C>T p.Q14X nonsense 0.00001591●●●●●●
85. 121413382 c.299C>G p.A100G missense 0.00001569●●●●●●
86. 121413374 c.307C>G p.R103G missense 0.00001482●●●●●●
87. 121413646 c.35C>G p.P12R missense 0.00001435●●●●●●
88. 121413649 c.32G>C p.G11A missense 0.00001373●●●●●●
89. 121413649 c.32G>A p.G11E missense 0.00001373●●●●●●
90. 121413664 c.17C>T p.T6I missense 0.00001236●●●●●●
91. 121413668 c.13T>C p.W5R missense 0.00001216●●●●●●
92. 121413317 c.364C>T p.R122C missense 0.00000971●●●●●●
93. 121413311 c.370T>G p.W124G missense 0.00000953●●●●●●
94. 121413298 c.383G>A p.G128D missense 0.00000924●●●●●●
95. 121413280 c.401C>T p.A134V missense 0.00000904●●●●●●
96. 121406194 c.1126C>G p.L376V missense 0.00000888●●●●●●
97. 121413265 c.416C>T p.A139V missense 0.00000884●●●●●●
98. 121413242 c.439G>A p.A147T missense 0.00000862●●●●●●
99. 121406277 c.1043G>A p.S348N missense 0.00000860●●●●●●
100. 121413241 c.440C>A p.A147E missense 0.00000859●●●●●●
101. 121413236 c.445G>A p.G149R missense 0.00000856●●●●●●
102. 121413042 c.631+8C>T splice site 0.00000850●●●●●●
103. 121413227 c.454C>G p.P152A missense 0.00000850●●●●●●
104. 121406218 c.1102G>A p.D368N missense 0.00000849●●●●●●
105. 121413199 c.482G>A p.S161N missense 0.00000847●●●●●●
106. 121413215 c.466A>G p.N156D missense 0.00000846●●●●●●
107. 121406259 c.1061C>T p.T354I missense 0.00000845●●●●●●
108. 121406223 c.1097T>C p.I366T missense 0.00000844●●●●●●
109. 121413056 c.625delC p.Gln209SerfsTer28 frameshift 0.00000843●●●●●●
110. 121413190 c.491A>T p.D164V missense 0.00000839●●●●●●
111. 121411235 c.742A>G p.T248A missense 0.00000838●●●●●●
112. 121413187 c.494G>A p.G165D missense 0.00000837●●●●●●
113. 121413182 c.499G>T p.V167L missense 0.00000835●●●●●●
114. 121413082 c.599G>A p.R200Q missense 0.00000834●●●●●●
115. 121413086 c.595T>A p.Y199N missense 0.00000833●●●●●●
116. 121402442 c.1250A>G p.Y417C missense 0.00000832●●●●●●
117. 121413161 c.520C>G p.P174A missense 0.00000831●●●●●●
118. 121413169 c.512C>T p.P171L missense 0.00000831●●●●●●
119. 121412694 c.634C>T p.L212F missense 0.00000831●●●●●●
120. 121411226 c.751A>G p.R251G missense 0.00000830●●●●●●
121. 121413133 c.548A>T p.Y183F missense 0.00000830●●●●●●
122. 121413137 c.544C>G p.P182A missense 0.00000830●●●●●●
123. 121413124 c.557A>G p.Y186C missense 0.00000830●●●●●●
124. 121412681 c.647T>A p.V216E missense 0.00000828●●●●●●
125. 121405745 c.1247+3A>G splice site 0.00000828●●●●●●
126. 121405745 c.1247+3_1247+4insT splice site 0.00000828●●●●●●
127. 121405748 c.1247C>T p.P416L missense 0.00000828●●●●●●
128. 121405860 c.1135A>C p.S379R missense 0.00000828●●●●●●
129. 121405748 c.1247C>G p.P416R missense 0.00000828●●●●●●
130. 121412581 c.740+7G>A splice site 0.00000827●●●●●●
131. 121405763 c.1232G>A p.G411D missense 0.00000826●●●●●●
132. 121405763 c.1232G>C p.G411A missense 0.00000826●●●●●●
133. 121411130 c.847A>G p.R283G missense 0.00000826●●●●●●
134. 121411208 c.769T>C p.Y257H missense 0.00000825●●●●●●
135. 121405782 c.1213C>T p.H405Y missense 0.00000825●●●●●●
136. 121412590 c.738C>A splice site 0.00000825●●●●●●
137. 121411196 c.781G>C p.V261L missense 0.00000825●●●●●●
138. 121405788 c.1207A>G p.T403A missense 0.00000825●●●●●●
139. 121405787 c.1208C>T p.T403I missense 0.00000825●●●●●●
140. 121412633 c.695C>A p.S232Y missense 0.00000825●●●●●●
141. 121411141 c.836C>T p.P279L missense 0.00000825●●●●●●
142. 121405829 c.1166C>G p.S389C missense 0.00000825●●●●●●
143. 121412596 c.732_735delTCTG p.Cys244TrpfsTer25 frameshift 0.00000825●●●●●●
144. 121405794 c.1201C>T p.R401C missense 0.00000825●●●●●●
145. 121411196 c.781G>T p.V261L missense 0.00000825●●●●●●
146. 121409862 c.881A>G p.H294R missense 0.00000825●●●●●●
147. 121409716 c.1027C>T p.H343Y missense 0.00000825●●●●●●
148. 121409785 c.958A>G p.K320E missense 0.00000824●●●●●●
149. 121409844 c.899A>G p.E300G 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.