CSRP3 missense variants in ExAC

CSRP3 gene summary
CSRP3 variants in HCM, DCM

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

* 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.