LAMP2 variants in ExAC

LAMP2 gene summary
LAMP2 variants in DCM, HCM

The table below lists the LAMP2 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. 119576455 c.927C>T p.S309S splice site 0.02745943●●●●●●
2. 119581776 c.661G>A p.G221R missense 0.00129892●●●●●●
3. 119580269 c.755T>G p.I252S missense 0.00103795●●●●●●
4. 119581685 c.741+11C>T splice site 0.00100536●●●●●●
5. 119590615 c.74G>A p.R25Q missense 0.00049013●●●●●●
6. 119581851 c.586A>T p.T196S missense 0.00023928●●●●●●
7. 119589224 c.385G>A p.A129T missense 0.00015993●●●●●●
8. 119590532 c.157C>T p.R53C missense 0.00014601●●●●●●
9. 119590531 c.158G>A p.R53H missense 0.00013120●●●●●●
10. 119575754 c.929-5T>C splice site 0.00012633●●●●●●
11. 119580289 c.742-7_742-5delCCT splice site 0.00009127●●●●●●
12. 119565274 c.1137A>G p.I379M missense 0.00009122●●●●●●
13. 119565321 c.1094-4C>T splice site 0.00007989●●●●●●
14. 119582848 c.533A>G p.Q178R missense 0.00006846●●●●●●
15. 119582920 c.461A>G p.N154S missense 0.00005773●●●●●●
16. 119575587 c.1091C>T p.T364I missense 0.00005712●●●●●●
17. 119589332 c.277G>A p.G93R missense 0.00005698●●●●●●
18. 119576462 c.920A>G p.N307S missense 0.00004561●●●●●●
19. 119590506 c.183T>C splice site 0.00004493●●●●●●
20. 119575600 c.1078G>A p.G360R missense 0.00003424●●●●●●
21. 119582864 c.517G>A p.V173I missense 0.00003423●●●●●●
22. 119565272 c.1139C>T p.A380V missense 0.00003421●●●●●●
23. 119589310 c.299C>T p.A100V missense 0.00003419●●●●●●
24. 119582966 c.415G>A p.E139K missense 0.00002415●●●●●●
25. 119602976 c.49G>T p.V17F missense 0.00002297●●●●●●
26. 119602976 c.49G>A p.V17I missense 0.00002297●●●●●●
27. 119582909 c.472A>G p.T158A missense 0.00002296●●●●●●
28. 119589405 c.204C>G p.D68E missense 0.00002285●●●●●●
29. 119576525 c.865-8dupT splice site 0.00002283●●●●●●
30. 119582848 c.533A>C p.Q178P missense 0.00002282●●●●●●
31. 119565294 c.1117_1119delGAC inframe 0.00002281●●●●●●
32. 119575699 c.979A>G p.S327G missense 0.00002281●●●●●●
33. 119580246 c.778C>T p.H260Y missense 0.00002281●●●●●●
34. 119580227 c.797G>A p.R266H missense 0.00002281●●●●●●
35. 119580174 c.850T>C p.F284L missense 0.00002280●●●●●●
36. 119589269 c.340G>A p.V114I missense 0.00002280●●●●●●
37. 119575678 c.1000G>C p.E334Q missense 0.00002280●●●●●●
38. 119589289 c.320C>G p.S107C missense 0.00002279●●●●●●
39. 119590624 c.65_67dupGAG p.Gly22dup inframe 0.00001514●●●●●●
40. 119590616 c.73C>T p.R25W missense 0.00001449●●●●●●
41. 119590589 c.100A>G p.T34A missense 0.00001361●●●●●●
42. 119582938 c.443A>G p.N148S missense 0.00001173●●●●●●
43. 119602996 c.29C>T p.P10L missense 0.00001150●●●●●●
44. 119589418 c.191T>G p.V64G missense 0.00001150●●●●●●
45. 119602991 c.34T>C p.S12P missense 0.00001149●●●●●●
46. 119575580 c.1093+5G>A splice site 0.00001144●●●●●●
47. 119582898 c.483G>C p.K161N missense 0.00001144●●●●●●
48. 119589404 c.205C>T p.H69Y missense 0.00001143●●●●●●
49. 119582822 c.556+3G>A splice site 0.00001143●●●●●●
50. 119589403 c.206A>G p.H69R missense 0.00001142●●●●●●
51. 119575594 c.1084T>C p.Y362H missense 0.00001142●●●●●●
52. 119575611 c.1067A>G p.N356S missense 0.00001141●●●●●●
53. 119576525 c.865-8delT splice site 0.00001141●●●●●●
54. 119582866 c.515T>C p.L172P missense 0.00001141●●●●●●
55. 119580258 c.766C>T p.P256S missense 0.00001141●●●●●●
56. 119589236 c.373_375delACA p.Thr125del inframe 0.00001141●●●●●●
57. 119576486 c.896T>C p.V299A missense 0.00001141●●●●●●
58. 119589236 c.373A>G p.T125A missense 0.00001141●●●●●●
59. 119580273 c.751G>A p.V251I missense 0.00001141●●●●●●
60. 119576521 c.865-4delA splice site 0.00001141●●●●●●
61. 119589398 c.211A>G p.T71A missense 0.00001141●●●●●●
62. 119589377 c.232A>G p.I78V missense 0.00001140●●●●●●
63. 119581708 c.729C>G p.I243M missense 0.00001140●●●●●●
64. 119576475 c.907A>G p.M303V missense 0.00001140●●●●●●
65. 119565293 c.1118A>G p.D373G missense 0.00001140●●●●●●
66. 119589278 c.331A>G p.I111V missense 0.00001140●●●●●●
67. 119589287 c.322A>G p.T108A missense 0.00001140●●●●●●
68. 119589253 c.356A>G p.N119S missense 0.00001140●●●●●●
69. 119580251 c.773C>T p.T258I missense 0.00001140●●●●●●
70. 119565236 c.1175T>C p.V392A missense 0.00001140●●●●●●
71. 119589391 c.218C>T p.T73I missense 0.00001140●●●●●●
72. 119581728 c.709A>G p.M237V missense 0.00001140●●●●●●
73. 119575624 c.1054G>A p.V352I missense 0.00001140●●●●●●
74. 119565294 c.1117G>T p.D373Y missense 0.00001140●●●●●●
75. 119589256 c.353A>G p.Y118C missense 0.00001140●●●●●●
76. 119581865 c.572A>T p.K191I missense 0.00001140●●●●●●
77. 119576448 c.928+6C>T splice site 0.00001140●●●●●●
78. 119589395 c.214G>A p.V72M missense 0.00001140●●●●●●
79. 119575675 c.1003C>G p.Q335E missense 0.00001140●●●●●●
80. 119575653 c.1025C>T p.A342V missense 0.00001140●●●●●●
81. 119581871 c.566G>A p.C189Y missense 0.00001140●●●●●●
82. 119581740 c.697C>G p.L233V missense 0.00001140●●●●●●
83. 119589247 c.362G>A p.G121D missense 0.00001140●●●●●●
84. 119589274 c.335A>G p.D112G missense 0.00001140●●●●●●
85. 119575657 c.1021G>C p.G341R missense 0.00001140●●●●●●
86. 119565204 c.1207C>A p.H403N missense 0.00001140●●●●●●
87. 119581851 c.586A>G p.T196A missense 0.00001139●●●●●●
88. 119581761 c.676A>G p.N226D missense 0.00001139●●●●●●
89. 119581797 c.640C>A p.P214T 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.