PDLIM3 missense variants in ExAC

PDLIM3 gene summary
PDLIM3 variants in

The table below lists the PDLIM3 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. 186427735 c.734C>T p.T245I missense 0.01720865●●●●●●
2. 186435443 c.379G>A p.V127M missense 0.00911173●●●●●●
3. 186456560 c.29C>T p.P10L missense 0.00085684●●●●●●
4. 186427754 c.715G>A p.D239N missense 0.00047944●●●●●●
5. 186446250 c.169A>G p.T57A missense 0.00042009●●●●●●
6. 186427772 c.697G>C p.V233L missense 0.00040586●●●●●●
7. 186423516 c.1027A>G p.T343A missense 0.00037892●●●●●●
8. 186427786 c.683C>T p.P228L missense 0.00017433●●●●●●
9. 186456575 c.14T>C p.V5A missense 0.00012636●●●●●●
10. 186427747 c.722G>A p.R241Q missense 0.00011567●●●●●●
11. 186429582 c.533T>C p.M178T missense 0.00010708●●●●●●
12. 186456578 c.11C>T p.T4M missense 0.00010341●●●●●●
13. 186425638 c.896G>A p.S299N missense 0.00009948●●●●●●
14. 186423617 c.926G>A p.R309Q missense 0.00007420●●●●●●
15. 186423462 c.1081T>C p.Y361H missense 0.00006590●●●●●●
16. 186423473 c.1070C>T p.T357M missense 0.00006590●●●●●●
17. 186427777 c.692C>T p.S231L missense 0.00004973●●●●●●
18. 186425641 c.893G>T p.G298V missense 0.00004972●●●●●●
19. 186446267 c.152C>T p.A51V missense 0.00004942●●●●●●
20. 186456566 c.23C>G p.P8R missense 0.00004751●●●●●●
21. 186444529 c.317A>C p.E106A missense 0.00004225●●●●●●
22. 186425698 c.836C>T p.T279M missense 0.00004143●●●●●●
23. 186427765 c.704G>A p.R235Q missense 0.00004137●●●●●●
24. 186435476 c.346G>C p.E116Q missense 0.00004120●●●●●●
25. 186444568 c.278C>G p.S93C missense 0.00003394●●●●●●
26. 186425659 c.875C>T p.P292L missense 0.00003309●●●●●●
27. 186427726 c.743G>A p.R248H missense 0.00003300●●●●●●
28. 186446278 c.141T>A p.D47E missense 0.00003295●●●●●●
29. 186429585 c.530A>C p.E177A missense 0.00003295●●●●●●
30. 186435458 c.364C>T p.R122W missense 0.00003295●●●●●●
31. 186423510 c.1033G>A p.A345T missense 0.00003295●●●●●●
32. 186423500 c.1043G>A p.R348H missense 0.00003295●●●●●●
33. 186456542 c.47G>T p.R16M missense 0.00003177●●●●●●
34. 186425734 c.800G>A p.R267H missense 0.00002629●●●●●●
35. 186425719 c.815G>A p.R272Q missense 0.00002520●●●●●●
36. 186427792 c.677C>T p.S226L missense 0.00002493●●●●●●
37. 186429675 c.440G>A p.R147H missense 0.00002483●●●●●●
38. 186429676 c.439C>T p.R147C missense 0.00002483●●●●●●
39. 186423620 c.923C>T p.A308V missense 0.00002474●●●●●●
40. 186446306 c.113C>T p.A38V missense 0.00002473●●●●●●
41. 186435488 c.334G>A p.G112R missense 0.00002472●●●●●●
42. 186446259 c.160G>A p.G54S missense 0.00002471●●●●●●
43. 186446202 c.217G>A p.A73T missense 0.00002471●●●●●●
44. 186425735 c.799C>T p.R267C missense 0.00001759●●●●●●
45. 186444589 c.257A>G p.H86R missense 0.00001750●●●●●●
46. 186444551 c.295C>T p.H99Y missense 0.00001681●●●●●●
47. 186427805 c.664G>A p.E222K missense 0.00001665●●●●●●
48. 186425710 c.824G>A p.R275K missense 0.00001664●●●●●●
49. 186429697 c.418G>A p.G140R missense 0.00001662●●●●●●
50. 186425635 c.899G>A p.G300D missense 0.00001660●●●●●●
51. 186425644 c.890G>T p.C297F missense 0.00001656●●●●●●
52. 186427766 c.703C>T p.R235W missense 0.00001655●●●●●●
53. 186425675 c.859G>A p.G287R missense 0.00001653●●●●●●
54. 186427748 c.721C>T p.R241W missense 0.00001653●●●●●●
55. 186427744 c.725A>G p.N242S missense 0.00001652●●●●●●
56. 186427738 c.731C>A p.P244H missense 0.00001651●●●●●●
57. 186427730 c.739C>A p.P247T missense 0.00001650●●●●●●
58. 186427720 c.749C>T p.S250L missense 0.00001650●●●●●●
59. 186427727 c.742C>T p.R248C missense 0.00001650●●●●●●
60. 186429640 c.475A>G p.I159V missense 0.00001650●●●●●●
61. 186429639 c.476T>A p.I159N missense 0.00001649●●●●●●
62. 186427685 c.784G>A p.D262N missense 0.00001649●●●●●●
63. 186423605 c.938G>A p.R313Q missense 0.00001649●●●●●●
64. 186435491 c.331G>A p.D111N missense 0.00001648●●●●●●
65. 186423579 c.964G>A p.D322N missense 0.00001648●●●●●●
66. 186423461 c.1082A>G p.Y361C missense 0.00001647●●●●●●
67. 186429456 c.659T>A p.M220K missense 0.00001647●●●●●●
68. 186456573 c.16A>T p.I6F missense 0.00001241●●●●●●
69. 186456566 c.23C>T p.P8L missense 0.00001188●●●●●●
70. 186456498 c.91A>G p.R31G missense 0.00001181●●●●●●
71. 186456500 c.89C>T p.T30I missense 0.00001159●●●●●●
72. 186456502 c.87C>G p.I29M missense 0.00001142●●●●●●
73. 186456555 c.34C>T p.P12S missense 0.00001111●●●●●●
74. 186456552 c.37T>G p.W13G missense 0.00001107●●●●●●
75. 186456522 c.67T>C p.F23L missense 0.00001044●●●●●●
76. 186456530 c.59G>A p.G20D missense 0.00001042●●●●●●
77. 186456527 c.62T>C p.I21T missense 0.00001040●●●●●●
78. 186425740 c.794A>G p.D265G missense 0.00000896●●●●●●
79. 186444592 c.254C>T p.T85I missense 0.00000883●●●●●●
80. 186444520 c.326C>G p.P109R missense 0.00000851●●●●●●
81. 186425722 c.812C>T p.T271M missense 0.00000844●●●●●●
82. 186425720 c.814C>T p.R272W missense 0.00000840●●●●●●
83. 186425716 c.818G>A p.S273N missense 0.00000837●●●●●●
84. 186429693 c.422T>C p.I141T missense 0.00000830●●●●●●
85. 186425701 c.833T>A p.V278E missense 0.00000829●●●●●●
86. 186425641 c.893G>A p.G298E missense 0.00000829●●●●●●
87. 186425647 c.887A>G p.K296R missense 0.00000828●●●●●●
88. 186427772 c.697G>A p.V233M missense 0.00000828●●●●●●
89. 186425644 c.890G>A p.C297Y missense 0.00000828●●●●●●
90. 186425687 c.847G>A p.G283S missense 0.00000827●●●●●●
91. 186427760 c.709C>T p.L237F missense 0.00000827●●●●●●
92. 186429669 c.446C>A p.T149N missense 0.00000827●●●●●●
93. 186427763 c.706A>C p.M236L missense 0.00000827●●●●●●
94. 186425683 c.851G>A p.G284D missense 0.00000827●●●●●●
95. 186429672 c.443G>A p.S148N missense 0.00000827●●●●●●
96. 186425669 c.865C>G p.Q289E missense 0.00000827●●●●●●
97. 186425684 c.850G>A p.G284S missense 0.00000827●●●●●●
98. 186425671 c.863C>A p.A288E missense 0.00000827●●●●●●
99. 186429658 c.457G>A p.V153I missense 0.00000826●●●●●●
100. 186427697 c.772G>A p.G258R missense 0.00000825●●●●●●
101. 186423621 c.922G>A p.A308T missense 0.00000825●●●●●●
102. 186423618 c.925C>T p.R309W missense 0.00000825●●●●●●
103. 186423626 c.917T>C p.V306A missense 0.00000825●●●●●●
104. 186423485 c.1058A>G p.E353G missense 0.00000824●●●●●●
105. 186446225 c.194C>T p.A65V missense 0.00000824●●●●●●
106. 186423533 c.1010G>T p.G337V missense 0.00000824●●●●●●
107. 186435457 c.365G>A p.R122Q missense 0.00000824●●●●●●
108. 186423519 c.1024G>A p.E342K missense 0.00000824●●●●●●
109. 186429547 c.568T>C p.F190L missense 0.00000824●●●●●●
110. 186423599 c.944C>A p.P315H missense 0.00000824●●●●●●
111. 186423501 c.1042C>T p.R348C missense 0.00000824●●●●●●
112. 186423513 c.1030C>T p.H344Y missense 0.00000824●●●●●●
113. 186429615 c.500C>T p.A167V missense 0.00000824●●●●●●
114. 186423610 c.933G>C p.K311N missense 0.00000824●●●●●●
115. 186423588 c.955G>A p.V319M missense 0.00000824●●●●●●
116. 186423570 c.973C>T p.L325F missense 0.00000824●●●●●●
117. 186423486 c.1057G>A p.E353K missense 0.00000824●●●●●●
118. 186446227 c.192T>A p.D64E missense 0.00000824●●●●●●
119. 186446183 c.236A>G p.K79R missense 0.00000824●●●●●●
120. 186423546 c.997T>C p.F333L missense 0.00000824●●●●●●
121. 186429560 c.555T>G p.I185M missense 0.00000824●●●●●●
122. 186423600 c.943C>T p.P315S missense 0.00000824●●●●●●
123. 186423539 c.1004T>A p.I335K missense 0.00000824●●●●●●
124. 186423536 c.1007A>G p.E336G missense 0.00000824●●●●●●
125. 186446279 c.140A>G p.D47G missense 0.00000824●●●●●●
126. 186446265 c.154A>G p.I52V missense 0.00000824●●●●●●
127. 186427682 c.787G>A p.G263S missense 0.00000824●●●●●●
128. 186429616 c.499G>T p.A167S missense 0.00000824●●●●●●
129. 186429507 c.608T>C p.M203T missense 0.00000824●●●●●●
130. 186423592 c.951C>G p.C317W missense 0.00000824●●●●●●
131. 186423506 c.1037G>C p.R346T missense 0.00000824●●●●●●
132. 186423491 c.1052C>T p.P351L missense 0.00000824●●●●●●
133. 186446235 c.184C>T p.H62Y missense 0.00000824●●●●●●
134. 186435425 c.397A>G p.S133G missense 0.00000824●●●●●●
135. 186429568 c.547G>C p.V183L missense 0.00000824●●●●●●
136. 186423600 c.943C>A p.P315T missense 0.00000824●●●●●●
137. 186435491 c.331G>C p.D111H missense 0.00000824●●●●●●
138. 186423539 c.1004T>C p.I335T missense 0.00000824●●●●●●
139. 186423606 c.937C>T p.R313W missense 0.00000824●●●●●●
140. 186446285 c.134C>T p.P45L missense 0.00000824●●●●●●
141. 186423579 c.964G>T p.D322Y missense 0.00000824●●●●●●
142. 186429519 c.596A>G p.D199G missense 0.00000824●●●●●●
143. 186423599 c.944C>G p.P315R missense 0.00000824●●●●●●
144. 186429463 c.652C>T p.P218S missense 0.00000824●●●●●●
145. 186423506 c.1037G>A p.R346K missense 0.00000824●●●●●●
146. 186446241 c.178A>C p.M60L missense 0.00000824●●●●●●
147. 186429631 c.484G>A p.G162S missense 0.00000824●●●●●●
148. 186423549 c.994T>C p.Y332H missense 0.00000824●●●●●●
149. 186423615 c.928G>A p.D310N 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.