CSRP3 protein-altering variants in ExAC


The table below lists the CSRP3 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. 19204234 c.568G>T p.V190L missense 0.00008237
2. 19207879 c.298C>T p.R100C missense 0.00007413
3. 19213883 c.112+1G>A essential splice site 0.00006606
4. 19213980 c.16G>A p.G6R missense 0.00006601
5. 19209816 c.148G>A p.A50T missense 0.00004132
6. 19209756 c.208G>T p.G70W missense 0.00004121
7. 19207825 c.352G>A p.E118K missense 0.00004118
8. 19207798 c.379G>A p.V127I missense 0.00004118
9. 19209828 c.136A>C p.S46R missense 0.00003308
10. 19209773 c.191G>A p.R64H missense 0.00003298
11. 19209750 c.214G>A p.G72R missense 0.00003297
12. 19209699 c.265G>A p.G89S missense 0.00003296
13. 19209713 c.251C>G p.T84R missense 0.00003296
14. 19209735 c.229G>T p.A77S missense 0.00003296
15. 19204258 c.544G>C p.G182R missense 0.00003295
16. 19209815 c.149C>T p.A50V missense 0.00002479
17. 19213898 c.98C>T p.T33M missense 0.00002473
18. 19209774 c.190C>T p.R64C missense 0.00002473
19. 19206570 c.437G>A p.R146H missense 0.00002473
20. 19204296 c.509-3_509-2delCA essential splice site 0.00002472
21. 19209713 c.251C>T p.T84M missense 0.00002472
22. 19204266 c.536C>T p.T179M missense 0.00002471
23. 19209848 c.116C>G p.A39G missense 0.00001659
24. 19209824 c.140C>T p.T47M missense 0.00001654
25. 19209812 c.152C>G p.A51G missense 0.00001652
26. 19213983 c.13G>C p.G5R missense 0.00001651
27. 19209796 c.168C>G p.I56M missense 0.00001650
28. 19206571 c.436C>T p.R146C missense 0.00001649
29. 19209789 c.175A>G p.K59E missense 0.00001649
30. 19213974 c.22G>A p.A8T missense 0.00001649
31. 19209699 c.265G>T p.G89C missense 0.00001648
32. 19213956 c.40G>C p.E14Q missense 0.00001648
33. 19209758 c.206A>G p.K69R missense 0.00001648
34. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648
35. 19209735 c.229G>A p.A77T missense 0.00001648
36. 19204267 c.535A>G p.T179A missense 0.00001648
37. 19207891 c.286C>T p.P96S missense 0.00001647
38. 19207884 c.293C>T p.P98L missense 0.00001647
39. 19204226 c.576G>C p.K192N missense 0.00001647
40. 19209850 c.114G>C p.M38I missense 0.00000829
41. 19213991 c.5C>A p.P2Q missense 0.00000827
42. 19209826 c.138C>A p.S46R missense 0.00000827
43. 19206593 c.415-1G>T essential splice site 0.00000826
44. 19213884 c.112A>C p.M38L missense 0.00000826
45. 19209809 c.155A>T p.H52L missense 0.00000826
46. 19209812 c.152C>T p.A51V missense 0.00000826
47. 19213887 c.109T>C p.C37R missense 0.00000825
48. 19209795 c.169T>C p.Y57H missense 0.00000825
49. 19206497 c.508+2T>C essential splice site 0.00000825
50. 19209803 c.161C>T p.S54L missense 0.00000825
51. 19213976 c.20G>T p.G7V missense 0.00000825
52. 19209798 c.166A>G p.I56V missense 0.00000825
53. 19207890 c.287C>T p.P96L missense 0.00000824
54. 19207866 c.311C>T p.T104I missense 0.00000824
55. 19209767 c.197A>G p.Y66C missense 0.00000824
56. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824
57. 19206558 c.449G>A p.C150Y missense 0.00000824
58. 19209774 c.190C>A p.R64S missense 0.00000824
59. 19207812 c.365G>A p.R122Q missense 0.00000824
60. 19209692 c.272A>T p.Q91L missense 0.00000824
61. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824
62. 19204273 c.529G>A p.G177S missense 0.00000824
63. 19204269 c.533C>T p.P178L missense 0.00000824
64. 19213922 c.74G>T p.C25F missense 0.00000824
65. 19209726 c.238C>T p.L80F missense 0.00000824
66. 19207833 c.344G>A p.G115E missense 0.00000824
67. 19209741 c.223C>A p.Q75K missense 0.00000824
68. 19207875 c.302C>T p.S101L missense 0.00000824
69. 19207791 c.386C>G p.A129G missense 0.00000824
70. 19204218 c.584G>A nonsense 0.00000824
71. 19206561 c.446T>A p.I149N missense 0.00000824
72. 19209708 c.256G>A p.E86K missense 0.00000824
73. 19207842 c.335C>T p.A112V missense 0.00000824
74. 19206499 c.508G>C p.V170L missense 0.00000824
75. 19213910 c.86G>A p.S29N missense 0.00000824
76. 19209752 c.212T>C p.I71T missense 0.00000824
77. 19213958 c.38G>A p.C13Y missense 0.00000824
78. 19207893 c.284C>T p.S95F missense 0.00000824
79. 19207818 c.359G>A p.C120Y missense 0.00000824
80. 19206573 c.434T>G p.F145C missense 0.00000824
81. 19213911 c.85A>C p.S29R missense 0.00000824
82. 19204270 c.532C>T p.P178S missense 0.00000824
83. 19204237 c.565C>T p.Q189X nonsense 0.00000824
84. 19209728 c.236G>C p.C79S missense 0.00000824
85. 19209734 c.230C>G p.A77G missense 0.00000824
86. 19206511 c.496C>G p.L166V missense 0.00000824
87. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824
88. 19207842 c.335C>A p.A112E missense 0.00000824
89. 19206540 c.467C>T p.S156F missense 0.00000824
90. 19204219 c.583T>C nonsense 0.00000824
91. 19213941 c.55C>G p.H19D missense 0.00000824
92. 19213967 c.29G>A p.C10Y missense 0.00000824
93. 19209695 c.269T>C p.L90P missense 0.00000824
94. 19207768 c.409G>T p.G137C missense 0.00000824
95. 19209682 c.281+1G>A essential splice site 0.00000824
96. 19207821 c.356A>G p.K119R missense 0.00000824
97. 19213947 c.49G>A p.V17I missense 0.00000824
98. 19204270 c.532C>G p.P178A 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.