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. 19207798 c.379G>A p.V127I missense 0.00004118
8. 19207825 c.352G>A p.E118K 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. 19209735 c.229G>T p.A77S missense 0.00003296
13. 19209699 c.265G>A p.G89S missense 0.00003296
14. 19209713 c.251C>G p.T84R 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. 19206570 c.437G>A p.R146H missense 0.00002473
19. 19209774 c.190C>T p.R64C missense 0.00002473
20. 19209713 c.251C>T p.T84M missense 0.00002472
21. 19204296 c.509-3_509-2delCA essential splice site 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. 19213974 c.22G>A p.A8T missense 0.00001649
29. 19206571 c.436C>T p.R146C missense 0.00001649
30. 19209789 c.175A>G p.K59E missense 0.00001649
31. 19209735 c.229G>A p.A77T missense 0.00001648
32. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648
33. 19209699 c.265G>T p.G89C missense 0.00001648
34. 19209758 c.206A>G p.K69R missense 0.00001648
35. 19204267 c.535A>G p.T179A missense 0.00001648
36. 19213956 c.40G>C p.E14Q missense 0.00001648
37. 19207891 c.286C>T p.P96S missense 0.00001647
38. 19204226 c.576G>C p.K192N missense 0.00001647
39. 19207884 c.293C>T p.P98L missense 0.00001647
40. 19209850 c.114G>C p.M38I missense 0.00000829
41. 19209826 c.138C>A p.S46R missense 0.00000827
42. 19213991 c.5C>A p.P2Q 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. 19209798 c.166A>G p.I56V missense 0.00000825
48. 19213976 c.20G>T p.G7V missense 0.00000825
49. 19209803 c.161C>T p.S54L missense 0.00000825
50. 19213887 c.109T>C p.C37R missense 0.00000825
51. 19206497 c.508+2T>C essential splice site 0.00000825
52. 19209795 c.169T>C p.Y57H missense 0.00000825
53. 19207818 c.359G>A p.C120Y missense 0.00000824
54. 19206499 c.508G>C p.V170L missense 0.00000824
55. 19209695 c.269T>C p.L90P missense 0.00000824
56. 19204218 c.584G>A nonsense 0.00000824
57. 19213922 c.74G>T p.C25F missense 0.00000824
58. 19207842 c.335C>A p.A112E missense 0.00000824
59. 19206573 c.434T>G p.F145C missense 0.00000824
60. 19204270 c.532C>T p.P178S missense 0.00000824
61. 19209774 c.190C>A p.R64S missense 0.00000824
62. 19209767 c.197A>G p.Y66C missense 0.00000824
63. 19213910 c.86G>A p.S29N missense 0.00000824
64. 19207890 c.287C>T p.P96L missense 0.00000824
65. 19207833 c.344G>A p.G115E missense 0.00000824
66. 19207821 c.356A>G p.K119R missense 0.00000824
67. 19206540 c.467C>T p.S156F missense 0.00000824
68. 19209692 c.272A>T p.Q91L missense 0.00000824
69. 19209741 c.223C>A p.Q75K missense 0.00000824
70. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824
71. 19204237 c.565C>T p.Q189X nonsense 0.00000824
72. 19204219 c.583T>C nonsense 0.00000824
73. 19213911 c.85A>C p.S29R missense 0.00000824
74. 19213958 c.38G>A p.C13Y missense 0.00000824
75. 19207866 c.311C>T p.T104I missense 0.00000824
76. 19207768 c.409G>T p.G137C missense 0.00000824
77. 19204270 c.532C>G p.P178A missense 0.00000824
78. 19209726 c.238C>T p.L80F missense 0.00000824
79. 19209682 c.281+1G>A essential splice site 0.00000824
80. 19213941 c.55C>G p.H19D missense 0.00000824
81. 19209728 c.236G>C p.C79S missense 0.00000824
82. 19206558 c.449G>A p.C150Y missense 0.00000824
83. 19209752 c.212T>C p.I71T missense 0.00000824
84. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824
85. 19209708 c.256G>A p.E86K missense 0.00000824
86. 19207875 c.302C>T p.S101L missense 0.00000824
87. 19213947 c.49G>A p.V17I missense 0.00000824
88. 19206511 c.496C>G p.L166V missense 0.00000824
89. 19207791 c.386C>G p.A129G missense 0.00000824
90. 19204273 c.529G>A p.G177S missense 0.00000824
91. 19209734 c.230C>G p.A77G missense 0.00000824
92. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824
93. 19207893 c.284C>T p.S95F missense 0.00000824
94. 19207842 c.335C>T p.A112V missense 0.00000824
95. 19213967 c.29G>A p.C10Y missense 0.00000824
96. 19206561 c.446T>A p.I149N missense 0.00000824
97. 19204269 c.533C>T p.P178L missense 0.00000824
98. 19207812 c.365G>A p.R122Q 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.