CSRP3 non-truncating variants in ExAC


The table below lists the CSRP3 non-truncating 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. 19204234 c.568G>T p.V190L missense 0.00008237
2. 19207879 c.298C>T p.R100C missense 0.00007413
3. 19213980 c.16G>A p.G6R missense 0.00006601
4. 19209816 c.148G>A p.A50T missense 0.00004132
5. 19209756 c.208G>T p.G70W missense 0.00004121
6. 19207825 c.352G>A p.E118K missense 0.00004118
7. 19207798 c.379G>A p.V127I missense 0.00004118
8. 19209828 c.136A>C p.S46R missense 0.00003308
9. 19209773 c.191G>A p.R64H missense 0.00003298
10. 19209750 c.214G>A p.G72R missense 0.00003297
11. 19209699 c.265G>A p.G89S missense 0.00003296
12. 19209713 c.251C>G p.T84R missense 0.00003296
13. 19209735 c.229G>T p.A77S missense 0.00003296
14. 19204258 c.544G>C p.G182R missense 0.00003295
15. 19209815 c.149C>T p.A50V missense 0.00002479
16. 19213898 c.98C>T p.T33M missense 0.00002473
17. 19209774 c.190C>T p.R64C missense 0.00002473
18. 19206570 c.437G>A p.R146H missense 0.00002473
19. 19209713 c.251C>T p.T84M missense 0.00002472
20. 19204266 c.536C>T p.T179M missense 0.00002471
21. 19209848 c.116C>G p.A39G missense 0.00001659
22. 19209824 c.140C>T p.T47M missense 0.00001654
23. 19209812 c.152C>G p.A51G missense 0.00001652
24. 19213983 c.13G>C p.G5R missense 0.00001651
25. 19209796 c.168C>G p.I56M missense 0.00001650
26. 19206571 c.436C>T p.R146C missense 0.00001649
27. 19209789 c.175A>G p.K59E missense 0.00001649
28. 19213974 c.22G>A p.A8T missense 0.00001649
29. 19204267 c.535A>G p.T179A missense 0.00001648
30. 19209699 c.265G>T p.G89C missense 0.00001648
31. 19209758 c.206A>G p.K69R missense 0.00001648
32. 19213956 c.40G>C p.E14Q missense 0.00001648
33. 19209735 c.229G>A p.A77T missense 0.00001648
34. 19207891 c.286C>T p.P96S missense 0.00001647
35. 19207884 c.293C>T p.P98L missense 0.00001647
36. 19204226 c.576G>C p.K192N missense 0.00001647
37. 19209850 c.114G>C p.M38I missense 0.00000829
38. 19213991 c.5C>A p.P2Q missense 0.00000827
39. 19209826 c.138C>A p.S46R missense 0.00000827
40. 19209809 c.155A>T p.H52L missense 0.00000826
41. 19213884 c.112A>C p.M38L missense 0.00000826
42. 19209812 c.152C>T p.A51V missense 0.00000826
43. 19213887 c.109T>C p.C37R missense 0.00000825
44. 19209798 c.166A>G p.I56V missense 0.00000825
45. 19209795 c.169T>C p.Y57H missense 0.00000825
46. 19209803 c.161C>T p.S54L missense 0.00000825
47. 19213976 c.20G>T p.G7V missense 0.00000825
48. 19213947 c.49G>A p.V17I missense 0.00000824
49. 19207812 c.365G>A p.R122Q missense 0.00000824
50. 19209692 c.272A>T p.Q91L missense 0.00000824
51. 19207866 c.311C>T p.T104I missense 0.00000824
52. 19206558 c.449G>A p.C150Y missense 0.00000824
53. 19204273 c.529G>A p.G177S missense 0.00000824
54. 19207833 c.344G>A p.G115E missense 0.00000824
55. 19209774 c.190C>A p.R64S missense 0.00000824
56. 19213922 c.74G>T p.C25F missense 0.00000824
57. 19209741 c.223C>A p.Q75K missense 0.00000824
58. 19207791 c.386C>G p.A129G missense 0.00000824
59. 19204269 c.533C>T p.P178L missense 0.00000824
60. 19209726 c.238C>T p.L80F missense 0.00000824
61. 19207875 c.302C>T p.S101L missense 0.00000824
62. 19206561 c.446T>A p.I149N missense 0.00000824
63. 19213910 c.86G>A p.S29N missense 0.00000824
64. 19213958 c.38G>A p.C13Y missense 0.00000824
65. 19209708 c.256G>A p.E86K missense 0.00000824
66. 19207893 c.284C>T p.S95F missense 0.00000824
67. 19207842 c.335C>T p.A112V missense 0.00000824
68. 19207818 c.359G>A p.C120Y missense 0.00000824
69. 19213911 c.85A>C p.S29R missense 0.00000824
70. 19204270 c.532C>T p.P178S missense 0.00000824
71. 19206499 c.508G>C p.V170L missense 0.00000824
72. 19209728 c.236G>C p.C79S missense 0.00000824
73. 19209752 c.212T>C p.I71T missense 0.00000824
74. 19209734 c.230C>G p.A77G missense 0.00000824
75. 19206511 c.496C>G p.L166V missense 0.00000824
76. 19206573 c.434T>G p.F145C missense 0.00000824
77. 19213941 c.55C>G p.H19D missense 0.00000824
78. 19213967 c.29G>A p.C10Y missense 0.00000824
79. 19207842 c.335C>A p.A112E missense 0.00000824
80. 19207821 c.356A>G p.K119R missense 0.00000824
81. 19206540 c.467C>T p.S156F missense 0.00000824
82. 19204270 c.532C>G p.P178A missense 0.00000824
83. 19209695 c.269T>C p.L90P missense 0.00000824
84. 19207890 c.287C>T p.P96L missense 0.00000824
85. 19209767 c.197A>G p.Y66C missense 0.00000824
86. 19207768 c.409G>T p.G137C missense 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.