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. 19207798 c.379G>A p.V127I missense 0.00004118●●●●●●
10. 19207825 c.352G>A p.E118K 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. 19206570 c.437G>A p.R146H missense 0.00002473●●●●●●
20. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
21. 19213898 c.98C>T p.T33M 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. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
33. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
34. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
35. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
36. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
37. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
38. 19207884 c.293C>T p.P98L missense 0.00001647●●●●●●
39. 19207891 c.286C>T p.P96S 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. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
52. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
53. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
54. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
55. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
56. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
57. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
58. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
59. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
60. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
61. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
62. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
63. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
64. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
65. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
66. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
67. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
68. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
69. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
70. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
71. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
72. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
73. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
74. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
75. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
76. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
77. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
78. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
79. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
80. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
81. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
82. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
83. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
84. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
85. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
86. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
87. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
88. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
89. 19213941 c.55C>G p.H19D 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.