LAMP2 protein-altering variants in ExAC

LAMP2 gene summary
LAMP2 variants in DCM, HCM

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 frequency▼Populations*
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. 119580227 c.797G>A p.R266H missense 0.00002281●●●●●●
18. 119580246 c.778C>T p.H260Y missense 0.00002281●●●●●●
19. 119575699 c.979A>G p.S327G missense 0.00002281●●●●●●
20. 119565294 c.1117_1119delGAC inframe 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. 119575594 c.1084T>C p.Y362H missense 0.00001142●●●●●●
35. 119589403 c.206A>G p.H69R missense 0.00001142●●●●●●
36. 119589236 c.373_375delACA p.Thr125del inframe 0.00001141●●●●●●
37. 119582866 c.515T>C p.L172P missense 0.00001141●●●●●●
38. 119589236 c.373A>G p.T125A missense 0.00001141●●●●●●
39. 119580273 c.751G>A p.V251I missense 0.00001141●●●●●●
40. 119589398 c.211A>G p.T71A missense 0.00001141●●●●●●
41. 119576486 c.896T>C p.V299A missense 0.00001141●●●●●●
42. 119575611 c.1067A>G p.N356S missense 0.00001141●●●●●●
43. 119580258 c.766C>T p.P256S missense 0.00001141●●●●●●
44. 119565236 c.1175T>C p.V392A missense 0.00001140●●●●●●
45. 119589391 c.218C>T p.T73I missense 0.00001140●●●●●●
46. 119581728 c.709A>G p.M237V missense 0.00001140●●●●●●
47. 119575624 c.1054G>A p.V352I missense 0.00001140●●●●●●
48. 119565294 c.1117G>T p.D373Y missense 0.00001140●●●●●●
49. 119581740 c.697C>G p.L233V missense 0.00001140●●●●●●
50. 119589256 c.353A>G p.Y118C missense 0.00001140●●●●●●
51. 119581865 c.572A>T p.K191I missense 0.00001140●●●●●●
52. 119589395 c.214G>A p.V72M missense 0.00001140●●●●●●
53. 119575675 c.1003C>G p.Q335E missense 0.00001140●●●●●●
54. 119575653 c.1025C>T p.A342V missense 0.00001140●●●●●●
55. 119589278 c.331A>G p.I111V missense 0.00001140●●●●●●
56. 119589274 c.335A>G p.D112G missense 0.00001140●●●●●●
57. 119581871 c.566G>A p.C189Y missense 0.00001140●●●●●●
58. 119589247 c.362G>A p.G121D missense 0.00001140●●●●●●
59. 119580251 c.773C>T p.T258I missense 0.00001140●●●●●●
60. 119575657 c.1021G>C p.G341R missense 0.00001140●●●●●●
61. 119565204 c.1207C>A p.H403N missense 0.00001140●●●●●●
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. 119589287 c.322A>G p.T108A missense 0.00001140●●●●●●
67. 119589253 c.356A>G p.N119S missense 0.00001140●●●●●●
68. 119581761 c.676A>G p.N226D missense 0.00001139●●●●●●
69. 119581797 c.640C>A p.P214T missense 0.00001139●●●●●●
70. 119581851 c.586A>G p.T196A 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.