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. 19209735 c.229G>T p.A77S missense 0.00003296●●●●●●
15. 19209699 c.265G>A p.G89S missense 0.00003296●●●●●●
16. 19209713 c.251C>G p.T84R 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. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
31. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
32. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
33. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
34. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
35. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
36. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
37. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
38. 19207891 c.286C>T p.P96S 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. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
47. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
48. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
49. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
50. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
51. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
52. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
53. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
54. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
55. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
56. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
57. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
58. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
59. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
60. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
61. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
62. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
63. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
64. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
65. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
66. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
67. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
68. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
69. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
70. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
71. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
72. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
73. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
74. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
75. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
76. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
77. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
78. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
79. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
80. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
81. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
82. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
83. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
84. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
85. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
86. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
87. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
88. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
89. 19204269 c.533C>T p.P178L 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.