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