LAMA2 truncating variants in ExAC

LAMA2 gene summary
LAMA2 variants in

The table below lists the LAMA2 truncating 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. 129475706 c.1084A>T p.R362X nonsense 0.00017306●●●●●●
2. 129837489 c.9366_9367insTAAT frameshift 0.00010963●●●●●●
3. 129573389 c.2045_2046delAG p.R683Sfs*91 frameshift 0.00009073●●●●●●
4. 129775422 c.6696C>T essential splice site 0.00006809●●●●●●
5. 129802567 c.7732C>T p.R2578X nonsense 0.00006594●●●●●●
6. 129637234 c.3976C>T p.R1326X nonsense 0.00004953●●●●●●
7. 129813628 c.8244T>C essential splice site 0.00004165●●●●●●
8. 129573234 c.1890_1894delTGACT p.Asp631GlufsTer8 frameshift 0.00003354●●●●●●
9. 129712680 c.5116C>T p.R1706X nonsense 0.00003324●●●●●●
10. 129601204 c.2451-2A>G essential splice site 0.00003310●●●●●●
11. 129785589 c.7147C>T p.R2383X nonsense 0.00003298●●●●●●
12. 129513915 c.1699_1700insTCAG p.Ile569GlnfsTer4 frameshift 0.00003298●●●●●●
13. 129204503 c.112+1G>A essential splice site 0.00002679●●●●●●
14. 129204466 c.76C>T p.Q26X nonsense 0.00002552●●●●●●
15. 129204472 c.82C>T p.Q28X nonsense 0.00002506●●●●●●
16. 129722486 c.5562+1G>A essential splice site 0.00002490●●●●●●
17. 129371234 c.283+1G>A essential splice site 0.00002476●●●●●●
18. 129674430 c.4645C>T p.R1549X nonsense 0.00002473●●●●●●
19. 129799920 c.7534delC p.Asp2513IlefsTer34 frameshift 0.00002472●●●●●●
20. 129813532 c.8148_8244+4delGTAA essential splice site 0.00001666●●●●●●
21. 129637306 c.4048C>T p.R1350X nonsense 0.00001662●●●●●●
22. 129712799 c.5234+1G>A essential splice site 0.00001659●●●●●●
23. 129691037 c.4861delC p.His1621Thrfs*20 frameshift 0.00001656●●●●●●
24. 129691052 c.4876C>T p.Q1626X nonsense 0.00001655●●●●●●
25. 129774223 c.6520delG p.Val2174Ter frameshift 0.00001655●●●●●●
26. 129601205 c.2451-1delG essential splice site 0.00001655●●●●●●
27. 129714275 c.5320_5321insA p.L1776Tfs*3 frameshift 0.00001653●●●●●●
28. 129785433 c.6993-2A>C essential splice site 0.00001653●●●●●●
29. 129781432 c.6955C>T p.R2319X nonsense 0.00001653●●●●●●
30. 129636905 c.3736-2A>T essential splice site 0.00001651●●●●●●
31. 129785516 c.7074C>A p.Y2358X nonsense 0.00001650●●●●●●
32. 129381008 c.363C>A p.Y121X nonsense 0.00001649●●●●●●
33. 129663524 c.4348C>T p.R1450X nonsense 0.00001648●●●●●●
34. 129636694 c.3629delT p.I1210Mfs*14 frameshift 0.00001647●●●●●●
35. 129704379 c.5071+1G>A essential splice site 0.00000972●●●●●●
36. 129618992 c.3019C>T p.Q1007X nonsense 0.00000868●●●●●●
37. 129618993 c.3020_3021delAA p.Gln1007ArgfsTer8 frameshift 0.00000868●●●●●●
38. 129774146 c.6443delT p.Val2148GlyfsTer27 frameshift 0.00000855●●●●●●
39. 129618993 c.3020_6707+2delGTAGCATCAAGGT essential splice site 0.00000851●●●●●●
40. 129612758 c.2750-1G>A essential splice site 0.00000849●●●●●●
41. 129634004 c.3175-2A>G essential splice site 0.00000848●●●●●●
42. 129687504 c.4858A>T p.K1620X nonsense 0.00000840●●●●●●
43. 129704313 c.5006delA p.Glu1669Glyfs*24 frameshift 0.00000839●●●●●●
44. 129764207 c.6269-1G>C essential splice site 0.00000833●●●●●●
45. 129764215 c.6274+2T>G essential splice site 0.00000833●●●●●●
46. 129813629 c.8244+1G>A essential splice site 0.00000833●●●●●●
47. 129786436 c.7300+2T>G essential splice site 0.00000833●●●●●●
48. 129813083 c.7936delA p.Met2646CysfsTer4 frameshift 0.00000832●●●●●●
49. 129637309 c.4051C>T p.Q1351X nonsense 0.00000832●●●●●●
50. 129465226 c.819+1_819+2insT essential splice site 0.00000831●●●●●●
51. 129786417 c.7283C>G p.S2428X nonsense 0.00000830●●●●●●
52. 129794487 c.7429A>T p.R2477X nonsense 0.00000830●●●●●●
53. 129794430 c.7372delT p.Phe2458LeufsTer5 frameshift 0.00000830●●●●●●
54. 129794434 c.7376_7377insT p.Leu2460SerfsTer2 frameshift 0.00000829●●●●●●
55. 129612837 c.2828delT p.Gln944ArgfsTer131 frameshift 0.00000828●●●●●●
56. 129813521 c.8137C>T p.Q2713X nonsense 0.00000827●●●●●●
57. 129618828 c.2857-2A>G essential splice site 0.00000827●●●●●●
58. 129837466 c.9343C>T p.Q3115X nonsense 0.00000827●●●●●●
59. 129774277 c.6573+1G>A essential splice site 0.00000827●●●●●●
60. 129807617 c.7750-2A>G essential splice site 0.00000827●●●●●●
61. 129766870 c.6333_6334insA p.Leu2113ThrfsTer8 frameshift 0.00000827●●●●●●
62. 129591829 c.2383G>T p.E795X nonsense 0.00000826●●●●●●
63. 129581969 c.2208+2T>C essential splice site 0.00000826●●●●●●
64. 129637181 c.3925-2A>G essential splice site 0.00000826●●●●●●
65. 129781424 c.6947G>A p.W2316X nonsense 0.00000826●●●●●●
66. 129663613 c.4436+1G>C essential splice site 0.00000826●●●●●●
67. 129807757 c.7888C>T p.R2630X nonsense 0.00000825●●●●●●
68. 129785512 c.7070G>A p.W2357X nonsense 0.00000825●●●●●●
69. 129807679 c.7810C>T p.R2604X nonsense 0.00000825●●●●●●
70. 129618874 c.2901C>A p.C967X nonsense 0.00000825●●●●●●
71. 129837452 c.9329delA p.Glu3110AspfsTer2 frameshift 0.00000825●●●●●●
72. 129724964 c.5727-2A>G essential splice site 0.00000825●●●●●●
73. 129498849 c.1307-2A>G essential splice site 0.00000825●●●●●●
74. 129636918 c.3747T>G p.Y1249X nonsense 0.00000825●●●●●●
75. 129674504 c.4717+2T>C essential splice site 0.00000825●●●●●●
76. 129591897 c.2450+1G>A essential splice site 0.00000825●●●●●●
77. 129828732 c.8802delT p.Phe2935LeufsTer30 frameshift 0.00000824●●●●●●
78. 129419363 c.442_443insG p.Pro149AlafsTer11 frameshift 0.00000824●●●●●●
79. 129833597 c.8947_8948insA p.Met2985AsnfsTer7 frameshift 0.00000824●●●●●●
80. 129419384 c.463G>T p.E155X nonsense 0.00000824●●●●●●
81. 129634114 c.3283C>T p.R1095X nonsense 0.00000824●●●●●●
82. 129609204 c.2749+1G>A essential splice site 0.00000824●●●●●●
83. 129419419 c.498G>A p.W166X nonsense 0.00000824●●●●●●
84. 129649444 c.4198C>T p.R1400X nonsense 0.00000824●●●●●●
85. 129621928 c.3085C>T p.R1029X nonsense 0.00000824●●●●●●
86. 129581926 c.2167_2168delGT p.Cys724SerfsTer12 frameshift 0.00000824●●●●●●
87. 129722399 c.5476C>T p.R1826X nonsense 0.00000824●●●●●●
88. 129674473 c.4688_4689insGCAT p.R1566Cfs*158 frameshift 0.00000824●●●●●●
89. 129588272 c.2230C>T p.R744X nonsense 0.00000824●●●●●●
90. 129609204 c.2749+1_2749+2insT essential splice site 0.00000824●●●●●●
91. 129371192 c.242_243delCG p.Gln82ValfsTer22 frameshift 0.00000824●●●●●●
92. 129371208 c.258C>A p.C86X nonsense 0.00000824●●●●●●
93. 129634124 c.3293delG p.Trp1098X frameshift 0.00000824●●●●●●
94. 129621947 c.3104_3107delATAC p.Asn1035ThrfsTer39 frameshift 0.00000824●●●●●●
95. 129571295 c.1821_1822delAT p.Tyr608Ter frameshift 0.00000824●●●●●●

* 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.