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. 119602996 c.29C>T p.P10L missense 0.00001150●●●●●●
2. 119602991 c.34T>C p.S12P missense 0.00001149●●●●●●
3. 119602976 c.49G>T p.V17F missense 0.00002297●●●●●●
4. 119602976 c.49G>A p.V17I missense 0.00002297●●●●●●
5. 119590624 c.65_67dupGAG p.Gly22dup inframe 0.00001514●●●●●●
6. 119590616 c.73C>T p.R25W missense 0.00001449●●●●●●
7. 119590589 c.100A>G p.T34A missense 0.00001361●●●●●●
8. 119589418 c.191T>G p.V64G missense 0.00001150●●●●●●
9. 119589405 c.204C>G p.D68E missense 0.00002285●●●●●●
10. 119589404 c.205C>T p.H69Y missense 0.00001143●●●●●●
11. 119589403 c.206A>G p.H69R missense 0.00001142●●●●●●
12. 119589398 c.211A>G p.T71A missense 0.00001141●●●●●●
13. 119589395 c.214G>A p.V72M missense 0.00001140●●●●●●
14. 119589391 c.218C>T p.T73I missense 0.00001140●●●●●●
15. 119589377 c.232A>G p.I78V missense 0.00001140●●●●●●
16. 119589332 c.277G>A p.G93R missense 0.00005698●●●●●●
17. 119589310 c.299C>T p.A100V missense 0.00003419●●●●●●
18. 119589289 c.320C>G p.S107C missense 0.00002279●●●●●●
19. 119589287 c.322A>G p.T108A missense 0.00001140●●●●●●
20. 119589278 c.331A>G p.I111V missense 0.00001140●●●●●●
21. 119589274 c.335A>G p.D112G missense 0.00001140●●●●●●
22. 119589269 c.340G>A p.V114I missense 0.00002280●●●●●●
23. 119589256 c.353A>G p.Y118C missense 0.00001140●●●●●●
24. 119589253 c.356A>G p.N119S missense 0.00001140●●●●●●
25. 119589247 c.362G>A p.G121D missense 0.00001140●●●●●●
26. 119589236 c.373A>G p.T125A missense 0.00001141●●●●●●
27. 119589236 c.373_375delACA p.Thr125del inframe 0.00001141●●●●●●
28. 119582966 c.415G>A p.E139K missense 0.00002415●●●●●●
29. 119582938 c.443A>G p.N148S missense 0.00001173●●●●●●
30. 119582920 c.461A>G p.N154S missense 0.00005773●●●●●●
31. 119582909 c.472A>G p.T158A missense 0.00002296●●●●●●
32. 119582898 c.483G>C p.K161N missense 0.00001144●●●●●●
33. 119582866 c.515T>C p.L172P missense 0.00001141●●●●●●
34. 119582864 c.517G>A p.V173I missense 0.00003423●●●●●●
35. 119582848 c.533A>G p.Q178R missense 0.00006846●●●●●●
36. 119582848 c.533A>C p.Q178P missense 0.00002282●●●●●●
37. 119581871 c.566G>A p.C189Y missense 0.00001140●●●●●●
38. 119581865 c.572A>T p.K191I missense 0.00001140●●●●●●
39. 119581851 c.586A>G p.T196A missense 0.00001139●●●●●●
40. 119581797 c.640C>A p.P214T missense 0.00001139●●●●●●
41. 119581761 c.676A>G p.N226D missense 0.00001139●●●●●●
42. 119581740 c.697C>G p.L233V missense 0.00001140●●●●●●
43. 119581728 c.709A>G p.M237V missense 0.00001140●●●●●●
44. 119581708 c.729C>G p.I243M missense 0.00001140●●●●●●
45. 119580273 c.751G>A p.V251I missense 0.00001141●●●●●●
46. 119580258 c.766C>T p.P256S missense 0.00001141●●●●●●
47. 119580251 c.773C>T p.T258I missense 0.00001140●●●●●●
48. 119580246 c.778C>T p.H260Y missense 0.00002281●●●●●●
49. 119580227 c.797G>A p.R266H missense 0.00002281●●●●●●
50. 119580174 c.850T>C p.F284L missense 0.00002280●●●●●●
51. 119576486 c.896T>C p.V299A missense 0.00001141●●●●●●
52. 119576475 c.907A>G p.M303V missense 0.00001140●●●●●●
53. 119576462 c.920A>G p.N307S missense 0.00004561●●●●●●
54. 119575699 c.979A>G p.S327G missense 0.00002281●●●●●●
55. 119575678 c.1000G>C p.E334Q missense 0.00002280●●●●●●
56. 119575675 c.1003C>G p.Q335E missense 0.00001140●●●●●●
57. 119575657 c.1021G>C p.G341R missense 0.00001140●●●●●●
58. 119575653 c.1025C>T p.A342V missense 0.00001140●●●●●●
59. 119575624 c.1054G>A p.V352I missense 0.00001140●●●●●●
60. 119575611 c.1067A>G p.N356S missense 0.00001141●●●●●●
61. 119575600 c.1078G>A p.G360R missense 0.00003424●●●●●●
62. 119575594 c.1084T>C p.Y362H missense 0.00001142●●●●●●
63. 119575587 c.1091C>T p.T364I missense 0.00005712●●●●●●
64. 119565294 c.1117_1119delGAC inframe 0.00002281●●●●●●
65. 119565294 c.1117G>T p.D373Y missense 0.00001140●●●●●●
66. 119565293 c.1118A>G p.D373G missense 0.00001140●●●●●●
67. 119565274 c.1137A>G p.I379M missense 0.00009122●●●●●●
68. 119565272 c.1139C>T p.A380V missense 0.00003421●●●●●●
69. 119565236 c.1175T>C p.V392A missense 0.00001140●●●●●●
70. 119565204 c.1207C>A p.H403N missense 0.00001140●●●●●●

* 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.