LAMP2 missense variants in ExAC

LAMP2 gene summary
LAMP2 variants in DCM, HCM

The table below lists the LAMP2 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. 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. 119580269 c.755T>G p.I252S missense 0.00103795●●●●●●
6. 119581776 c.661G>A p.G221R missense 0.00129892●●●●●●
7. 119581851 c.586A>T p.T196S missense 0.00023928●●●●●●
8. 119582864 c.517G>A p.V173I missense 0.00003423●●●●●●
9. 119582909 c.472A>G p.T158A missense 0.00002296●●●●●●
10. 119589224 c.385G>A p.A129T missense 0.00015993●●●●●●
11. 119576486 c.896T>C p.V299A missense 0.00001141●●●●●●
12. 119580227 c.797G>A p.R266H missense 0.00002281●●●●●●
13. 119575594 c.1084T>C p.Y362H missense 0.00001142●●●●●●
14. 119580174 c.850T>C p.F284L missense 0.00002280●●●●●●
15. 119582866 c.515T>C p.L172P missense 0.00001141●●●●●●
16. 119582966 c.415G>A p.E139K missense 0.00002415●●●●●●
17. 119589269 c.340G>A p.V114I missense 0.00002280●●●●●●
18. 119589405 c.204C>G p.D68E missense 0.00002285●●●●●●
19. 119590615 c.74G>A p.R25Q missense 0.00049013●●●●●●
20. 119581740 c.697C>G p.L233V missense 0.00001140●●●●●●
21. 119589278 c.331A>G p.I111V missense 0.00001140●●●●●●
22. 119589310 c.299C>T p.A100V missense 0.00003419●●●●●●
23. 119590531 c.158G>A p.R53H missense 0.00013120●●●●●●
24. 119590616 c.73C>T p.R25W missense 0.00001449●●●●●●
25. 119602996 c.29C>T p.P10L missense 0.00001150●●●●●●
26. 119565204 c.1207C>A p.H403N missense 0.00001140●●●●●●
27. 119565236 c.1175T>C p.V392A missense 0.00001140●●●●●●
28. 119565272 c.1139C>T p.A380V missense 0.00003421●●●●●●
29. 119565274 c.1137A>G p.I379M missense 0.00009122●●●●●●
30. 119565293 c.1118A>G p.D373G missense 0.00001140●●●●●●
31. 119565294 c.1117G>T p.D373Y missense 0.00001140●●●●●●
32. 119575600 c.1078G>A p.G360R missense 0.00003424●●●●●●
33. 119575611 c.1067A>G p.N356S missense 0.00001141●●●●●●
34. 119575624 c.1054G>A p.V352I missense 0.00001140●●●●●●
35. 119575653 c.1025C>T p.A342V missense 0.00001140●●●●●●
36. 119575657 c.1021G>C p.G341R missense 0.00001140●●●●●●
37. 119575678 c.1000G>C p.E334Q missense 0.00002280●●●●●●
38. 119575699 c.979A>G p.S327G missense 0.00002281●●●●●●
39. 119576462 c.920A>G p.N307S missense 0.00004561●●●●●●
40. 119576475 c.907A>G p.M303V missense 0.00001140●●●●●●
41. 119580246 c.778C>T p.H260Y missense 0.00002281●●●●●●
42. 119580273 c.751G>A p.V251I missense 0.00001141●●●●●●
43. 119581708 c.729C>G p.I243M missense 0.00001140●●●●●●
44. 119581728 c.709A>G p.M237V missense 0.00001140●●●●●●
45. 119581761 c.676A>G p.N226D missense 0.00001139●●●●●●
46. 119581797 c.640C>A p.P214T missense 0.00001139●●●●●●
47. 119581851 c.586A>G p.T196A missense 0.00001139●●●●●●
48. 119581865 c.572A>T p.K191I missense 0.00001140●●●●●●
49. 119581871 c.566G>A p.C189Y missense 0.00001140●●●●●●
50. 119582848 c.533A>G p.Q178R missense 0.00006846●●●●●●
51. 119582848 c.533A>C p.Q178P missense 0.00002282●●●●●●
52. 119582898 c.483G>C p.K161N missense 0.00001144●●●●●●
53. 119582920 c.461A>G p.N154S missense 0.00005773●●●●●●
54. 119582938 c.443A>G p.N148S missense 0.00001173●●●●●●
55. 119589236 c.373A>G p.T125A missense 0.00001141●●●●●●
56. 119589247 c.362G>A p.G121D missense 0.00001140●●●●●●
57. 119589253 c.356A>G p.N119S missense 0.00001140●●●●●●
58. 119589256 c.353A>G p.Y118C missense 0.00001140●●●●●●
59. 119589274 c.335A>G p.D112G missense 0.00001140●●●●●●
60. 119589287 c.322A>G p.T108A missense 0.00001140●●●●●●
61. 119589289 c.320C>G p.S107C missense 0.00002279●●●●●●
62. 119589332 c.277G>A p.G93R missense 0.00005698●●●●●●
63. 119589377 c.232A>G p.I78V missense 0.00001140●●●●●●
64. 119589391 c.218C>T p.T73I missense 0.00001140●●●●●●
65. 119589395 c.214G>A p.V72M missense 0.00001140●●●●●●
66. 119589398 c.211A>G p.T71A missense 0.00001141●●●●●●
67. 119589403 c.206A>G p.H69R missense 0.00001142●●●●●●
68. 119589404 c.205C>T p.H69Y missense 0.00001143●●●●●●
69. 119589418 c.191T>G p.V64G missense 0.00001150●●●●●●
70. 119590532 c.157C>T p.R53C missense 0.00014601●●●●●●
71. 119590589 c.100A>G p.T34A missense 0.00001361●●●●●●
72. 119602976 c.49G>T p.V17F missense 0.00002297●●●●●●
73. 119602976 c.49G>A p.V17I missense 0.00002297●●●●●●
74. 119602991 c.34T>C p.S12P missense 0.00001149●●●●●●

* 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.