LAMP2 protein-altering variants in ExAC


The table below lists the LAMP2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 119575587 c.1091C>T p.T364I missense 0.00005712
2. 119575675 c.1003C>G p.Q335E missense 0.00001140
3. 119580251 c.773C>T p.T258I missense 0.00001140
4. 119580258 c.766C>T p.P256S missense 0.00001141
5. 119582864 c.517G>A p.V173I missense 0.00003423
6. 119582909 c.472A>G p.T158A missense 0.00002296
7. 119576486 c.896T>C p.V299A missense 0.00001141
8. 119580227 c.797G>A p.R266H missense 0.00002281
9. 119575594 c.1084T>C p.Y362H missense 0.00001142
10. 119580174 c.850T>C p.F284L missense 0.00002280
11. 119582866 c.515T>C p.L172P missense 0.00001141
12. 119582966 c.415G>A p.E139K missense 0.00002415
13. 119589269 c.340G>A p.V114I missense 0.00002280
14. 119589405 c.204C>G p.D68E missense 0.00002285
15. 119581740 c.697C>G p.L233V missense 0.00001140
16. 119589278 c.331A>G p.I111V missense 0.00001140
17. 119589310 c.299C>T p.A100V missense 0.00003419
18. 119590616 c.73C>T p.R25W missense 0.00001449
19. 119602996 c.29C>T p.P10L missense 0.00001150
20. 119565204 c.1207C>A p.H403N missense 0.00001140
21. 119565236 c.1175T>C p.V392A missense 0.00001140
22. 119565272 c.1139C>T p.A380V missense 0.00003421
23. 119565274 c.1137A>G p.I379M missense 0.00009122
24. 119565293 c.1118A>G p.D373G missense 0.00001140
25. 119565294 c.1117G>T p.D373Y missense 0.00001140
26. 119575600 c.1078G>A p.G360R missense 0.00003424
27. 119575611 c.1067A>G p.N356S missense 0.00001141
28. 119575624 c.1054G>A p.V352I missense 0.00001140
29. 119575653 c.1025C>T p.A342V missense 0.00001140
30. 119575657 c.1021G>C p.G341R missense 0.00001140
31. 119575678 c.1000G>C p.E334Q missense 0.00002280
32. 119575699 c.979A>G p.S327G missense 0.00002281
33. 119576462 c.920A>G p.N307S missense 0.00004561
34. 119576475 c.907A>G p.M303V missense 0.00001140
35. 119580246 c.778C>T p.H260Y missense 0.00002281
36. 119580273 c.751G>A p.V251I missense 0.00001141
37. 119581708 c.729C>G p.I243M missense 0.00001140
38. 119581728 c.709A>G p.M237V missense 0.00001140
39. 119581761 c.676A>G p.N226D missense 0.00001139
40. 119581797 c.640C>A p.P214T missense 0.00001139
41. 119581851 c.586A>G p.T196A missense 0.00001139
42. 119581865 c.572A>T p.K191I missense 0.00001140
43. 119581871 c.566G>A p.C189Y missense 0.00001140
44. 119582848 c.533A>G p.Q178R missense 0.00006846
45. 119582848 c.533A>C p.Q178P missense 0.00002282
46. 119582898 c.483G>C p.K161N missense 0.00001144
47. 119582920 c.461A>G p.N154S missense 0.00005773
48. 119582938 c.443A>G p.N148S missense 0.00001173
49. 119589236 c.373A>G p.T125A missense 0.00001141
50. 119589247 c.362G>A p.G121D missense 0.00001140
51. 119589253 c.356A>G p.N119S missense 0.00001140
52. 119589256 c.353A>G p.Y118C missense 0.00001140
53. 119589274 c.335A>G p.D112G missense 0.00001140
54. 119589287 c.322A>G p.T108A missense 0.00001140
55. 119589289 c.320C>G p.S107C missense 0.00002279
56. 119589332 c.277G>A p.G93R missense 0.00005698
57. 119589377 c.232A>G p.I78V missense 0.00001140
58. 119589391 c.218C>T p.T73I missense 0.00001140
59. 119589395 c.214G>A p.V72M missense 0.00001140
60. 119589398 c.211A>G p.T71A missense 0.00001141
61. 119589403 c.206A>G p.H69R missense 0.00001142
62. 119589404 c.205C>T p.H69Y missense 0.00001143
63. 119589418 c.191T>G p.V64G missense 0.00001150
64. 119590589 c.100A>G p.T34A missense 0.00001361
65. 119602976 c.49G>T p.V17F missense 0.00002297
66. 119602976 c.49G>A p.V17I missense 0.00002297
67. 119602991 c.34T>C p.S12P missense 0.00001149
68. 119565294 c.1117_1119delGAC inframe 0.00002281
69. 119589236 c.373_375delACA p.Thr125del inframe 0.00001141
70. 119590624 c.65_67dupGAG p.Gly22dup inframe 0.00001514

* 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.