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. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
22. 19213898 c.98C>T p.T33M missense 0.00002473●●●●●●
23. 19206570 c.437G>A p.R146H 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. 19209789 c.175A>G p.K59E missense 0.00001649●●●●●●
33. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
34. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
35. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
36. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
37. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
38. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648●●●●●●
39. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
40. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
41. 19207884 c.293C>T p.P98L missense 0.00001647●●●●●●
42. 19207891 c.286C>T p.P96S missense 0.00001647●●●●●●
43. 19204226 c.576G>C p.K192N 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. 19213878 c.112+6T>C splice site 0.00000827●●●●●●
48. 19209826 c.138C>A p.S46R missense 0.00000827●●●●●●
49. 19213991 c.5C>A p.P2Q missense 0.00000827●●●●●●
50. 19206593 c.415-1G>T essential splice site 0.00000826●●●●●●
51. 19209809 c.155A>T p.H52L missense 0.00000826●●●●●●
52. 19213884 c.112A>C p.M38L missense 0.00000826●●●●●●
53. 19209812 c.152C>T p.A51V missense 0.00000826●●●●●●
54. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
55. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
56. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
57. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
58. 19206497 c.508+2T>C essential splice site 0.00000825●●●●●●
59. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
60. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
61. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
62. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
63. 19204218 c.584G>A nonsense 0.00000824●●●●●●
64. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
65. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
66. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
67. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
68. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
69. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
70. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
71. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
72. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
73. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
74. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
75. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
76. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
77. 19204219 c.583T>C nonsense 0.00000824●●●●●●
78. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
79. 19204237 c.565C>T p.Q189X nonsense 0.00000824●●●●●●
80. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
81. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824●●●●●●
82. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
83. 19209682 c.281+1G>A essential splice site 0.00000824●●●●●●
84. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
85. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
86. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
87. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
88. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
89. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
90. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
91. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824●●●●●●
92. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
93. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
94. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
95. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
96. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
97. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
98. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
99. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
100. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
101. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
102. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824●●●●●●
103. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
104. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
105. 19213967 c.29G>A p.C10Y 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.