CSRP3 protein-altering variants in ExAC

CSRP3 gene summary
CSRP3 variants in HCM, DCM

The table below lists the CSRP3 protein-altering 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. 19213991 c.5C>A p.P2Q missense 0.00000827●●●●●●
2. 19213983 c.13G>C p.G5R missense 0.00001651●●●●●●
3. 19213980 c.16G>A p.G6R missense 0.00006601●●●●●●
4. 19213976 c.20G>T p.G7V missense 0.00000825●●●●●●
5. 19213974 c.22G>A p.A8T missense 0.00001649●●●●●●
6. 19213967 c.29G>A p.C10Y missense 0.00000824●●●●●●
7. 19213958 c.38G>A p.C13Y missense 0.00000824●●●●●●
8. 19213956 c.40G>C p.E14Q missense 0.00001648●●●●●●
9. 19213947 c.49G>A p.V17I missense 0.00000824●●●●●●
10. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824●●●●●●
11. 19213941 c.55C>G p.H19D missense 0.00000824●●●●●●
12. 19213922 c.74G>T p.C25F missense 0.00000824●●●●●●
13. 19213911 c.85A>C p.S29R missense 0.00000824●●●●●●
14. 19213910 c.86G>A p.S29N missense 0.00000824●●●●●●
15. 19213898 c.98C>T p.T33M missense 0.00002473●●●●●●
16. 19213887 c.109T>C p.C37R missense 0.00000825●●●●●●
17. 19213884 c.112A>C p.M38L missense 0.00000826●●●●●●
18. 19213883 c.112+1G>A essential splice site 0.00006606●●●●●●
19. 19209850 c.114G>C p.M38I missense 0.00000829●●●●●●
20. 19209848 c.116C>G p.A39G missense 0.00001659●●●●●●
21. 19209828 c.136A>C p.S46R missense 0.00003308●●●●●●
22. 19209826 c.138C>A p.S46R missense 0.00000827●●●●●●
23. 19209824 c.140C>T p.T47M missense 0.00001654●●●●●●
24. 19209816 c.148G>A p.A50T missense 0.00004132●●●●●●
25. 19209815 c.149C>T p.A50V missense 0.00002479●●●●●●
26. 19209812 c.152C>T p.A51V missense 0.00000826●●●●●●
27. 19209812 c.152C>G p.A51G missense 0.00001652●●●●●●
28. 19209809 c.155A>T p.H52L missense 0.00000826●●●●●●
29. 19209803 c.161C>T p.S54L missense 0.00000825●●●●●●
30. 19209798 c.166A>G p.I56V missense 0.00000825●●●●●●
31. 19209796 c.168C>G p.I56M missense 0.00001650●●●●●●
32. 19209795 c.169T>C p.Y57H missense 0.00000825●●●●●●
33. 19209789 c.175A>G p.K59E missense 0.00001649●●●●●●
34. 19209774 c.190C>T p.R64C missense 0.00002473●●●●●●
35. 19209774 c.190C>A p.R64S missense 0.00000824●●●●●●
36. 19209773 c.191G>A p.R64H missense 0.00003298●●●●●●
37. 19209767 c.197A>G p.Y66C missense 0.00000824●●●●●●
38. 19209758 c.206A>G p.K69R missense 0.00001648●●●●●●
39. 19209756 c.208G>T p.G70W missense 0.00004121●●●●●●
40. 19209752 c.212T>C p.I71T missense 0.00000824●●●●●●
41. 19209750 c.214G>A p.G72R missense 0.00003297●●●●●●
42. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824●●●●●●
43. 19209741 c.223C>A p.Q75K missense 0.00000824●●●●●●
44. 19209735 c.229G>A p.A77T missense 0.00001648●●●●●●
45. 19209735 c.229G>T p.A77S missense 0.00003296●●●●●●
46. 19209734 c.230C>G p.A77G missense 0.00000824●●●●●●
47. 19209728 c.236G>C p.C79S missense 0.00000824●●●●●●
48. 19209726 c.238C>T p.L80F missense 0.00000824●●●●●●
49. 19209713 c.251C>G p.T84R missense 0.00003296●●●●●●
50. 19209713 c.251C>T p.T84M missense 0.00002472●●●●●●
51. 19209708 c.256G>A p.E86K missense 0.00000824●●●●●●
52. 19209699 c.265G>A p.G89S missense 0.00003296●●●●●●
53. 19209699 c.265G>T p.G89C missense 0.00001648●●●●●●
54. 19209695 c.269T>C p.L90P missense 0.00000824●●●●●●
55. 19209692 c.272A>T p.Q91L missense 0.00000824●●●●●●
56. 19209682 c.281+1G>A essential splice site 0.00000824●●●●●●
57. 19207893 c.284C>T p.S95F missense 0.00000824●●●●●●
58. 19207891 c.286C>T p.P96S missense 0.00001647●●●●●●
59. 19207890 c.287C>T p.P96L missense 0.00000824●●●●●●
60. 19207884 c.293C>T p.P98L missense 0.00001647●●●●●●
61. 19207879 c.298C>T p.R100C missense 0.00007413●●●●●●
62. 19207875 c.302C>T p.S101L missense 0.00000824●●●●●●
63. 19207866 c.311C>T p.T104I missense 0.00000824●●●●●●
64. 19207842 c.335C>T p.A112V missense 0.00000824●●●●●●
65. 19207842 c.335C>A p.A112E missense 0.00000824●●●●●●
66. 19207833 c.344G>A p.G115E missense 0.00000824●●●●●●
67. 19207825 c.352G>A p.E118K missense 0.00004118●●●●●●
68. 19207821 c.356A>G p.K119R missense 0.00000824●●●●●●
69. 19207818 c.359G>A p.C120Y missense 0.00000824●●●●●●
70. 19207812 c.365G>A p.R122Q missense 0.00000824●●●●●●
71. 19207798 c.379G>A p.V127I missense 0.00004118●●●●●●
72. 19207791 c.386C>G p.A129G missense 0.00000824●●●●●●
73. 19207768 c.409G>T p.G137C missense 0.00000824●●●●●●
74. 19206593 c.415-1G>T essential splice site 0.00000826●●●●●●
75. 19206573 c.434T>G p.F145C missense 0.00000824●●●●●●
76. 19206571 c.436C>T p.R146C missense 0.00001649●●●●●●
77. 19206570 c.437G>A p.R146H missense 0.00002473●●●●●●
78. 19206561 c.446T>A p.I149N missense 0.00000824●●●●●●
79. 19206558 c.449G>A p.C150Y missense 0.00000824●●●●●●
80. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648●●●●●●
81. 19206540 c.467C>T p.S156F missense 0.00000824●●●●●●
82. 19206511 c.496C>G p.L166V missense 0.00000824●●●●●●
83. 19206499 c.508G>C p.V170L missense 0.00000824●●●●●●
84. 19206497 c.508+2T>C essential splice site 0.00000825●●●●●●
85. 19204296 c.509-3_509-2delCA essential splice site 0.00002472●●●●●●
86. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824●●●●●●
87. 19204273 c.529G>A p.G177S missense 0.00000824●●●●●●
88. 19204270 c.532C>T p.P178S missense 0.00000824●●●●●●
89. 19204270 c.532C>G p.P178A missense 0.00000824●●●●●●
90. 19204269 c.533C>T p.P178L missense 0.00000824●●●●●●
91. 19204267 c.535A>G p.T179A missense 0.00001648●●●●●●
92. 19204266 c.536C>T p.T179M missense 0.00002471●●●●●●
93. 19204258 c.544G>C p.G182R missense 0.00003295●●●●●●
94. 19204237 c.565C>T p.Q189X nonsense 0.00000824●●●●●●
95. 19204234 c.568G>T p.V190L missense 0.00008237●●●●●●
96. 19204226 c.576G>C p.K192N missense 0.00001647●●●●●●
97. 19204219 c.583T>C nonsense 0.00000824●●●●●●
98. 19204218 c.584G>A nonsense 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.