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. 19207798 c.379G>A p.V127I missense 0.00004118●●●●●●
11. 19207825 c.352G>A p.E118K 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. 19209699 c.265G>A p.G89S missense 0.00003296●●●●●●
16. 19209713 c.251C>G p.T84R missense 0.00003296●●●●●●
17. 19209735 c.229G>T p.A77S 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. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
22. 19206570 c.437G>A p.R146H 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. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
33. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
34. 19209789 c.175A>G p.K59E missense 0.00001649●●●●●●
35. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
36. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
37. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648●●●●●●
38. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
39. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
40. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
41. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
42. 19207884 c.293C>T p.P98L 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. 19213991 c.5C>A p.P2Q missense 0.00000827●●●●●●
49. 19213878 c.112+6T>C splice site 0.00000827●●●●●●
50. 19209809 c.155A>T p.H52L missense 0.00000826●●●●●●
51. 19209812 c.152C>T p.A51V missense 0.00000826●●●●●●
52. 19213884 c.112A>C p.M38L missense 0.00000826●●●●●●
53. 19206593 c.415-1G>T essential splice site 0.00000826●●●●●●
54. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
55. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
56. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
57. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
58. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
59. 19206497 c.508+2T>C essential splice site 0.00000825●●●●●●
60. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
61. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
62. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
63. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
64. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
65. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
66. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
67. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
68. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
69. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
70. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
71. 19204237 c.565C>T p.Q189X nonsense 0.00000824●●●●●●
72. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
73. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
74. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
75. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
76. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
77. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
78. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
79. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
80. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
81. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
82. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
83. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
84. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
85. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
86. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
87. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
88. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
89. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
90. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
91. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
92. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
93. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
94. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
95. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
96. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
97. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
98. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
99. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
100. 19204218 c.584G>A nonsense 0.00000824●●●●●●
101. 19204219 c.583T>C nonsense 0.00000824●●●●●●
102. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824●●●●●●
103. 19209682 c.281+1G>A essential splice site 0.00000824●●●●●●
104. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824●●●●●●
105. 19213944 c.52delT p.Tyr18ThrfsTer190 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.