CSRP3 variants in ExAC

CSRP3 gene summary
CSRP3 variants in HCM, DCM

The table below lists the CSRP3 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. 19213986 c.10T>C p.W4R missense 0.00237018●●●●●●
2. 19207878 c.299G>A p.R100H missense 0.00143323●●●●●●
3. 19204264 c.538G>T p.G180C missense 0.00014828●●●●●●
4. 19204234 c.568G>T p.V190L missense 0.00008237●●●●●●
5. 19207879 c.298C>T p.R100C missense 0.00007413●●●●●●
6. 19213883 c.112+1G>A essential splice site 0.00006606●●●●●●
7. 19213980 c.16G>A p.G6R missense 0.00006601●●●●●●
8. 19209816 c.148G>A p.A50T missense 0.00004132●●●●●●
9. 19209756 c.208G>T p.G70W missense 0.00004121●●●●●●
10. 19207825 c.352G>A p.E118K missense 0.00004118●●●●●●
11. 19207798 c.379G>A p.V127I missense 0.00004118●●●●●●
12. 19209828 c.136A>C p.S46R missense 0.00003308●●●●●●
13. 19209773 c.191G>A p.R64H missense 0.00003298●●●●●●
14. 19209750 c.214G>A p.G72R missense 0.00003297●●●●●●
15. 19209713 c.251C>G p.T84R missense 0.00003296●●●●●●
16. 19209735 c.229G>T p.A77S missense 0.00003296●●●●●●
17. 19209699 c.265G>A p.G89S missense 0.00003296●●●●●●
18. 19204258 c.544G>C p.G182R missense 0.00003295●●●●●●
19. 19207757 c.414+6A>G splice site 0.00003295●●●●●●
20. 19209815 c.149C>T p.A50V missense 0.00002479●●●●●●
21. 19206570 c.437G>A p.R146H missense 0.00002473●●●●●●
22. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
23. 19213898 c.98C>T p.T33M missense 0.00002473●●●●●●
24. 19204296 c.509-3_509-2delCA essential splice site 0.00002472●●●●●●
25. 19209713 c.251C>T p.T84M missense 0.00002472●●●●●●
26. 19204266 c.536C>T p.T179M missense 0.00002471●●●●●●
27. 19209848 c.116C>G p.A39G missense 0.00001659●●●●●●
28. 19209824 c.140C>T p.T47M missense 0.00001654●●●●●●
29. 19209812 c.152C>G p.A51G missense 0.00001652●●●●●●
30. 19213983 c.13G>C p.G5R missense 0.00001651●●●●●●
31. 19209796 c.168C>G p.I56M missense 0.00001650●●●●●●
32. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
33. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
34. 19209789 c.175A>G p.K59E missense 0.00001649●●●●●●
35. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
36. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648●●●●●●
37. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
38. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
39. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
40. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
41. 19207884 c.293C>T p.P98L missense 0.00001647●●●●●●
42. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
43. 19207891 c.286C>T p.P96S missense 0.00001647●●●●●●
44. 19214027 c.-28-4T>G splice site 0.00000848●●●●●●
45. 19209857 c.113-6T>C splice site 0.00000831●●●●●●
46. 19209850 c.114G>C p.M38I missense 0.00000829●●●●●●
47. 19209826 c.138C>A p.S46R missense 0.00000827●●●●●●
48. 19213878 c.112+6T>C splice site 0.00000827●●●●●●
49. 19213991 c.5C>A p.P2Q missense 0.00000827●●●●●●
50. 19213884 c.112A>C p.M38L missense 0.00000826●●●●●●
51. 19206593 c.415-1G>T essential splice site 0.00000826●●●●●●
52. 19209812 c.152C>T p.A51V missense 0.00000826●●●●●●
53. 19209809 c.155A>T p.H52L missense 0.00000826●●●●●●
54. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
55. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
56. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
57. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
58. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
59. 19206497 c.508+2T>C essential splice site 0.00000825●●●●●●
60. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
61. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
62. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
63. 19204218 c.584G>A nonsense 0.00000824●●●●●●
64. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
65. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
66. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
67. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
68. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
69. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
70. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
71. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
72. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
73. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
74. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
75. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
76. 19204219 c.583T>C nonsense 0.00000824●●●●●●
77. 19204237 c.565C>T p.Q189X nonsense 0.00000824●●●●●●
78. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
79. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
80. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
81. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
82. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824●●●●●●
83. 19209682 c.281+1G>A essential splice site 0.00000824●●●●●●
84. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
85. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
86. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
87. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
88. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824●●●●●●
89. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
90. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
91. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
92. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
93. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
94. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
95. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
96. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
97. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
98. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
99. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
100. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
101. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824●●●●●●
102. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
103. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
104. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
105. 19207893 c.284C>T p.S95F 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.