CSRP3 non-truncating variants in ExAC

CSRP3 gene summary
CSRP3 variants in HCM, DCM

The table below lists the CSRP3 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 19204234 c.568G>T p.V190L missense 0.00008237●●●●●●
2. 19207879 c.298C>T p.R100C missense 0.00007413●●●●●●
3. 19213980 c.16G>A p.G6R missense 0.00006601●●●●●●
4. 19209816 c.148G>A p.A50T missense 0.00004132●●●●●●
5. 19209756 c.208G>T p.G70W missense 0.00004121●●●●●●
6. 19207798 c.379G>A p.V127I missense 0.00004118●●●●●●
7. 19207825 c.352G>A p.E118K missense 0.00004118●●●●●●
8. 19209828 c.136A>C p.S46R missense 0.00003308●●●●●●
9. 19209773 c.191G>A p.R64H missense 0.00003298●●●●●●
10. 19209750 c.214G>A p.G72R missense 0.00003297●●●●●●
11. 19209713 c.251C>G p.T84R missense 0.00003296●●●●●●
12. 19209735 c.229G>T p.A77S missense 0.00003296●●●●●●
13. 19209699 c.265G>A p.G89S missense 0.00003296●●●●●●
14. 19204258 c.544G>C p.G182R missense 0.00003295●●●●●●
15. 19209815 c.149C>T p.A50V missense 0.00002479●●●●●●
16. 19206570 c.437G>A p.R146H missense 0.00002473●●●●●●
17. 19213898 c.98C>T p.T33M missense 0.00002473●●●●●●
18. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
19. 19209713 c.251C>T p.T84M missense 0.00002472●●●●●●
20. 19204266 c.536C>T p.T179M missense 0.00002471●●●●●●
21. 19209848 c.116C>G p.A39G missense 0.00001659●●●●●●
22. 19209824 c.140C>T p.T47M missense 0.00001654●●●●●●
23. 19209812 c.152C>G p.A51G missense 0.00001652●●●●●●
24. 19213983 c.13G>C p.G5R missense 0.00001651●●●●●●
25. 19209796 c.168C>G p.I56M missense 0.00001650●●●●●●
26. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
27. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
28. 19209789 c.175A>G p.K59E missense 0.00001649●●●●●●
29. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
30. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
31. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
32. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
33. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
34. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
35. 19207891 c.286C>T p.P96S missense 0.00001647●●●●●●
36. 19207884 c.293C>T p.P98L missense 0.00001647●●●●●●
37. 19209850 c.114G>C p.M38I missense 0.00000829●●●●●●
38. 19209826 c.138C>A p.S46R missense 0.00000827●●●●●●
39. 19213991 c.5C>A p.P2Q missense 0.00000827●●●●●●
40. 19213884 c.112A>C p.M38L missense 0.00000826●●●●●●
41. 19209812 c.152C>T p.A51V missense 0.00000826●●●●●●
42. 19209809 c.155A>T p.H52L missense 0.00000826●●●●●●
43. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
44. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
45. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
46. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
47. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
48. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
49. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
50. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
51. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
52. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
53. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
54. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
55. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
56. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
57. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
58. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
59. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
60. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
61. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
62. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
63. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
64. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
65. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
66. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
67. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
68. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
69. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
70. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
71. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
72. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
73. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
74. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
75. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
76. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
77. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
78. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
79. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
80. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
81. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
82. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
83. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
84. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
85. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
86. 19206511 c.496C>G p.L166V 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.