GATA5 variants in ExAC

GATA5 gene summary
GATA5 variants in

The table below lists the GATA5 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. 61050379 c.199A>C p.T67P missense 0.25641026●●●●●●
2. 61050570 c.8A>G p.Q3R missense 0.02364600●●●●●●
3. 61050522 c.56C>G p.S19W missense 0.02068966●●●●●●
4. 61041617 c.700-10G>A splice site 0.01739846●●●●●●
5. 61050082 c.496G>A p.G166S missense 0.01447777●●●●●●
6. 61048448 c.699+11G>A splice site 0.00555113●●●●●●
7. 61041473 c.825+9G>T splice site 0.00491884●●●●●●
8. 61040984 c.826-7C>T splice site 0.00391962●●●●●●
9. 61050154 c.424T>C p.Y142H missense 0.00203528●●●●●●
10. 61048460 c.698T>C p.L233P missense 0.00201961●●●●●●
11. 61050493 c.85G>A p.G29S missense 0.00050505●●●●●●
12. 61040019 c.1067C>G p.A356G missense 0.00044984●●●●●●
13. 61039959 c.1127C>G p.P376R missense 0.00044289●●●●●●
14. 61050101 c.477C>G p.F159L missense 0.00034602●●●●●●
15. 61050553 c.25G>A p.A9T missense 0.00034522●●●●●●
16. 61050109 c.469G>A p.G157R missense 0.00030998●●●●●●
17. 61048479 c.679G>A p.V227I missense 0.00026048●●●●●●
18. 61050200 c.378C>G p.F126L missense 0.00025189●●●●●●
19. 61050196 c.382G>A p.A128T missense 0.00025075●●●●●●
20. 61048542 c.616G>C p.G206R missense 0.00021683●●●●●●
21. 61050526 c.52G>A p.D18N missense 0.00016324●●●●●●
22. 61040458 c.976A>G p.T326A missense 0.00015626●●●●●●
23. 61039993 c.1093G>A p.E365K missense 0.00015389●●●●●●
24. 61050529 c.49G>T p.A17S missense 0.00014548●●●●●●
25. 61039927 c.1159C>T p.R387C missense 0.00013805●●●●●●
26. 61040911 c.892G>A p.A298T missense 0.00012782●●●●●●
27. 61050543 c.35G>A p.R12H missense 0.00012538●●●●●●
28. 61050552 c.26C>G p.A9G missense 0.00011598●●●●●●
29. 61050596 c.-19C>T splice site 0.00011231●●●●●●
30. 61040014 c.1072G>A p.G358S missense 0.00011212●●●●●●
31. 61040502 c.932C>T p.S311L missense 0.00011060●●●●●●
32. 61050561 c.17C>A p.A6E missense 0.00010668●●●●●●
33. 61041598 c.709C>T p.R237C missense 0.00010307●●●●●●
34. 61041597 c.710G>A p.R237H missense 0.00010290●●●●●●
35. 61041540 c.767G>A p.R256Q missense 0.00010136●●●●●●
36. 61048612 c.546C>G p.F182L missense 0.00009941●●●●●●
37. 61048601 c.557G>T p.G186V missense 0.00009001●●●●●●
38. 61048484 c.674C>T p.P225L missense 0.00008153●●●●●●
39. 61048451 c.699+8C>T splice site 0.00008060●●●●●●
40. 61041541 c.766C>T p.R256W missense 0.00006961●●●●●●
41. 61048553 c.605G>A p.R202Q missense 0.00006955●●●●●●
42. 61039998 c.1088A>G p.K363R missense 0.00006847●●●●●●
43. 61040928 c.875G>T p.R292L missense 0.00006741●●●●●●
44. 61041484 c.823G>A p.G275R missense 0.00006541●●●●●●
45. 61041484 c.823G>C p.G275R missense 0.00006541●●●●●●
46. 61040886 c.913+4C>T splice site 0.00006477●●●●●●
47. 61039917 c.1169C>T p.A390V missense 0.00005196●●●●●●
48. 61041594 c.713G>A p.R238H missense 0.00005029●●●●●●
49. 61048610 c.548C>T p.P183L missense 0.00004910●●●●●●
50. 61048608 c.550G>C p.G184R missense 0.00004795●●●●●●
51. 61040398 c.1036dupC p.Gln346ProfsTer8 frameshift 0.00004768●●●●●●
52. 61040981 c.826-4C>A splice site 0.00004637●●●●●●
53. 61048475 c.683G>A p.R228Q missense 0.00004603●●●●●●
54. 61041586 c.721C>T p.L241F missense 0.00004594●●●●●●
55. 61039911 c.1175G>A p.C392Y missense 0.00004346●●●●●●
56. 61039926 c.1160G>A p.R387H missense 0.00004318●●●●●●
57. 61041566 c.741C>A p.H247Q missense 0.00003971●●●●●●
58. 61041567 c.740A>T p.H247L missense 0.00003963●●●●●●
59. 61040433 c.1001C>T p.A334V missense 0.00003660●●●●●●
60. 61040520 c.914G>A p.G305E missense 0.00003441●●●●●●
61. 61039959 c.1127C>T p.P376L missense 0.00003407●●●●●●
62. 61040404 c.1030G>A p.A344T missense 0.00003366●●●●●●
63. 61048518 c.640G>A p.G214S missense 0.00003355●●●●●●
64. 61040885 c.913+5G>A splice site 0.00003272●●●●●●
65. 61048542 c.616G>A p.G206S missense 0.00003252●●●●●●
66. 61041505 c.802G>A p.G268S missense 0.00003129●●●●●●
67. 61041505 c.802G>T p.G268C missense 0.00003129●●●●●●
68. 61040898 c.905G>C p.G302A missense 0.00002868●●●●●●
69. 61048581 c.577G>A p.G193R missense 0.00002644●●●●●●
70. 61039965 c.1121C>T p.T374M missense 0.00002554●●●●●●
71. 61048572 c.586T>C p.S196P missense 0.00002530●●●●●●
72. 61048494 c.664G>A p.V222I missense 0.00002462●●●●●●
73. 61040928 c.875G>A p.R292Q missense 0.00002247●●●●●●
74. 61048637 c.524-3C>T splice site 0.00002175●●●●●●
75. 61040934 c.869G>T p.R290L missense 0.00002157●●●●●●
76. 61040975 c.828G>A splice site 0.00002152●●●●●●
77. 61040973 c.830C>T p.P277L missense 0.00002139●●●●●●
78. 61048633 c.525G>T splice site 0.00002060●●●●●●
79. 61040425 c.1009G>T p.V337L missense 0.00001898●●●●●●
80. 61040954 c.849G>C p.K283N missense 0.00001849●●●●●●
81. 61040434 c.1000G>A p.A334T missense 0.00001821●●●●●●
82. 61048464 c.694C>G p.R232G missense 0.00001750●●●●●●
83. 61040454 c.980C>T p.S327L missense 0.00001750●●●●●●
84. 61048464 c.694C>A p.R232S missense 0.00001750●●●●●●
85. 61040529 c.914-9C>T splice site 0.00001730●●●●●●
86. 61040019 c.1067C>T p.A356V missense 0.00001730●●●●●●
87. 61048617 c.541G>A p.E181K missense 0.00001727●●●●●●
88. 61039933 c.1153dupG p.Ala385GlyfsTer32 frameshift 0.00001724●●●●●●
89. 61039937 c.1149G>C p.R383S missense 0.00001722●●●●●●
90. 61039937 c.1149G>T p.R383S missense 0.00001722●●●●●●
91. 61039942 c.1144C>T p.L382F missense 0.00001720●●●●●●
92. 61039962 c.1124C>G p.A375G missense 0.00001703●●●●●●
93. 61048476 c.682C>T p.R228W missense 0.00001504●●●●●●
94. 61048487 c.671G>A p.R224Q missense 0.00001325●●●●●●
95. 61040388 c.1038+8G>C splice site 0.00001262●●●●●●
96. 61048571 c.587C>T p.S196F missense 0.00001257●●●●●●
97. 61040389 c.1038+7G>A splice site 0.00001252●●●●●●
98. 61040396 c.1038G>A splice site 0.00001194●●●●●●
99. 61048557 c.601C>T p.R201C missense 0.00001190●●●●●●
100. 61048502 c.656T>C p.M219T missense 0.00001166●●●●●●
101. 61040403 c.1031C>T p.A344V missense 0.00001132●●●●●●
102. 61048515 c.643C>T p.L215F missense 0.00001124●●●●●●
103. 61048548 c.610G>A p.G204S missense 0.00001085●●●●●●
104. 61048532 c.626T>C p.L209P missense 0.00001083●●●●●●
105. 61040407 c.1027A>G p.M343V missense 0.00001080●●●●●●
106. 61040424 c.1010T>G p.V337G missense 0.00000953●●●●●●
107. 61040055 c.1039-8C>G splice site 0.00000913●●●●●●
108. 61040051 c.1039-4G>A splice site 0.00000907●●●●●●
109. 61040049 c.1039-2A>C essential splice site 0.00000903●●●●●●
110. 61040041 c.1045G>A p.G349S missense 0.00000895●●●●●●
111. 61040440 c.994A>G p.S332G missense 0.00000888●●●●●●
112. 61040449 c.985G>A p.A329T missense 0.00000873●●●●●●
113. 61039908 c.1178C>T p.A393V missense 0.00000871●●●●●●
114. 61040457 c.977C>T p.T326I missense 0.00000871●●●●●●
115. 61039912 c.1174T>G p.C392G missense 0.00000868●●●●●●
116. 61040015 c.1071delC p.Gly358AlafsTer107 frameshift 0.00000862●●●●●●
117. 61039933 c.1153G>C p.A385P missense 0.00000862●●●●●●
118. 61039933 c.1153G>A p.A385T missense 0.00000862●●●●●●
119. 61040521 c.914-1G>T essential splice site 0.00000861●●●●●●
120. 61040010 c.1076A>G p.H359R missense 0.00000860●●●●●●
121. 61039956 c.1130G>C p.S377T missense 0.00000857●●●●●●
122. 61040476 c.958A>G p.T320A missense 0.00000856●●●●●●
123. 61039993 c.1093G>C p.E365Q missense 0.00000855●●●●●●
124. 61040511 c.923G>A p.R308K missense 0.00000855●●●●●●
125. 61040480 c.954dupC p.Ser319GlnfsTer3 frameshift 0.00000854●●●●●●
126. 61039990 c.1096C>T p.P366S missense 0.00000854●●●●●●
127. 61040482 c.952G>A p.A318T missense 0.00000853●●●●●●
128. 61040506 c.928G>A p.A310T missense 0.00000852●●●●●●
129. 61039965 c.1121C>A p.T374K missense 0.00000851●●●●●●
130. 61039968 c.1118C>G p.S373C missense 0.00000851●●●●●●

* 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.