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