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. 119581776 c.661G>A p.G221R missense 0.00129892●●●●●●
2. 119580269 c.755T>G p.I252S missense 0.00103795●●●●●●
3. 119590615 c.74G>A p.R25Q missense 0.00049013●●●●●●
4. 119581851 c.586A>T p.T196S missense 0.00023928●●●●●●
5. 119589224 c.385G>A p.A129T missense 0.00015993●●●●●●
6. 119590532 c.157C>T p.R53C missense 0.00014601●●●●●●
7. 119590531 c.158G>A p.R53H missense 0.00013120●●●●●●
8. 119565274 c.1137A>G p.I379M missense 0.00009122●●●●●●
9. 119582848 c.533A>G p.Q178R missense 0.00006846●●●●●●
10. 119582920 c.461A>G p.N154S missense 0.00005773●●●●●●
11. 119575587 c.1091C>T p.T364I missense 0.00005712●●●●●●
12. 119589332 c.277G>A p.G93R missense 0.00005698●●●●●●
13. 119576462 c.920A>G p.N307S missense 0.00004561●●●●●●
14. 119575600 c.1078G>A p.G360R missense 0.00003424●●●●●●
15. 119582864 c.517G>A p.V173I missense 0.00003423●●●●●●
16. 119565272 c.1139C>T p.A380V missense 0.00003421●●●●●●
17. 119589310 c.299C>T p.A100V missense 0.00003419●●●●●●
18. 119582966 c.415G>A p.E139K missense 0.00002415●●●●●●
19. 119602976 c.49G>T p.V17F missense 0.00002297●●●●●●
20. 119602976 c.49G>A p.V17I missense 0.00002297●●●●●●
21. 119582909 c.472A>G p.T158A missense 0.00002296●●●●●●
22. 119589405 c.204C>G p.D68E missense 0.00002285●●●●●●
23. 119582848 c.533A>C p.Q178P missense 0.00002282●●●●●●
24. 119580227 c.797G>A p.R266H missense 0.00002281●●●●●●
25. 119580246 c.778C>T p.H260Y missense 0.00002281●●●●●●
26. 119575699 c.979A>G p.S327G missense 0.00002281●●●●●●
27. 119589269 c.340G>A p.V114I missense 0.00002280●●●●●●
28. 119575678 c.1000G>C p.E334Q missense 0.00002280●●●●●●
29. 119580174 c.850T>C p.F284L missense 0.00002280●●●●●●
30. 119589289 c.320C>G p.S107C missense 0.00002279●●●●●●
31. 119590616 c.73C>T p.R25W missense 0.00001449●●●●●●
32. 119590589 c.100A>G p.T34A missense 0.00001361●●●●●●
33. 119582938 c.443A>G p.N148S missense 0.00001173●●●●●●
34. 119602996 c.29C>T p.P10L missense 0.00001150●●●●●●
35. 119589418 c.191T>G p.V64G missense 0.00001150●●●●●●
36. 119602991 c.34T>C p.S12P missense 0.00001149●●●●●●
37. 119582898 c.483G>C p.K161N missense 0.00001144●●●●●●
38. 119589404 c.205C>T p.H69Y missense 0.00001143●●●●●●
39. 119575594 c.1084T>C p.Y362H missense 0.00001142●●●●●●
40. 119589403 c.206A>G p.H69R missense 0.00001142●●●●●●
41. 119582866 c.515T>C p.L172P missense 0.00001141●●●●●●
42. 119589236 c.373A>G p.T125A missense 0.00001141●●●●●●
43. 119580273 c.751G>A p.V251I missense 0.00001141●●●●●●
44. 119589398 c.211A>G p.T71A missense 0.00001141●●●●●●
45. 119575611 c.1067A>G p.N356S missense 0.00001141●●●●●●
46. 119580258 c.766C>T p.P256S missense 0.00001141●●●●●●
47. 119576486 c.896T>C p.V299A missense 0.00001141●●●●●●
48. 119589395 c.214G>A p.V72M missense 0.00001140●●●●●●
49. 119589274 c.335A>G p.D112G missense 0.00001140●●●●●●
50. 119581871 c.566G>A p.C189Y missense 0.00001140●●●●●●
51. 119575675 c.1003C>G p.Q335E missense 0.00001140●●●●●●
52. 119575657 c.1021G>C p.G341R missense 0.00001140●●●●●●
53. 119565204 c.1207C>A p.H403N missense 0.00001140●●●●●●
54. 119589377 c.232A>G p.I78V missense 0.00001140●●●●●●
55. 119589247 c.362G>A p.G121D missense 0.00001140●●●●●●
56. 119581708 c.729C>G p.I243M missense 0.00001140●●●●●●
57. 119589287 c.322A>G p.T108A missense 0.00001140●●●●●●
58. 119580251 c.773C>T p.T258I missense 0.00001140●●●●●●
59. 119576475 c.907A>G p.M303V missense 0.00001140●●●●●●
60. 119565293 c.1118A>G p.D373G missense 0.00001140●●●●●●
61. 119565236 c.1175T>C p.V392A missense 0.00001140●●●●●●
62. 119581740 c.697C>G p.L233V missense 0.00001140●●●●●●
63. 119589253 c.356A>G p.N119S missense 0.00001140●●●●●●
64. 119581728 c.709A>G p.M237V missense 0.00001140●●●●●●
65. 119575624 c.1054G>A p.V352I missense 0.00001140●●●●●●
66. 119589391 c.218C>T p.T73I missense 0.00001140●●●●●●
67. 119565294 c.1117G>T p.D373Y missense 0.00001140●●●●●●
68. 119589278 c.331A>G p.I111V missense 0.00001140●●●●●●
69. 119589256 c.353A>G p.Y118C missense 0.00001140●●●●●●
70. 119581865 c.572A>T p.K191I missense 0.00001140●●●●●●
71. 119575653 c.1025C>T p.A342V missense 0.00001140●●●●●●
72. 119581797 c.640C>A p.P214T missense 0.00001139●●●●●●
73. 119581851 c.586A>G p.T196A missense 0.00001139●●●●●●
74. 119581761 c.676A>G p.N226D missense 0.00001139●●●●●●

* 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.