PDLIM3 variants in ExAC

PDLIM3 gene summary
PDLIM3 variants in

The table below lists the PDLIM3 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. 186444529 c.317A>C p.E106A missense 0.00004225●●●●●●
2. 186423539 c.1004T>A p.I335K missense 0.00000824●●●●●●
3. 186423606 c.937C>T p.R313W missense 0.00000824●●●●●●
4. 186423615 c.928G>A p.D310N missense 0.00000824●●●●●●
5. 186425638 c.896G>A p.S299N missense 0.00009948●●●●●●
6. 186425698 c.836C>T p.T279M missense 0.00004143●●●●●●
7. 186427735 c.734C>T p.T245I missense 0.01720865●●●●●●
8. 186427754 c.715G>A p.D239N missense 0.00047944●●●●●●
9. 186427772 c.697G>C p.V233L missense 0.00040586●●●●●●
10. 186429463 c.652C>T p.P218S missense 0.00000824●●●●●●
11. 186429585 c.530A>C p.E177A missense 0.00003295●●●●●●
12. 186435443 c.379G>A p.V127M missense 0.00911173●●●●●●
13. 186435491 c.331G>C p.D111H missense 0.00000824●●●●●●
14. 186446250 c.169A>G p.T57A missense 0.00042009●●●●●●
15. 186446306 c.113C>T p.A38V missense 0.00002473●●●●●●
16. 186456560 c.29C>T p.P10L missense 0.00085684●●●●●●
17. 186423617 c.926G>A p.R309Q missense 0.00007420●●●●●●
18. 186425659 c.875C>T p.P292L missense 0.00003309●●●●●●
19. 186427786 c.683C>T p.P228L missense 0.00017433●●●●●●
20. 186423510 c.1033G>A p.A345T missense 0.00003295●●●●●●
21. 186423519 c.1024G>A p.E342K missense 0.00000824●●●●●●
22. 186425735 c.799C>T p.R267C missense 0.00001759●●●●●●
23. 186427738 c.731C>A p.P244H missense 0.00001651●●●●●●
24. 186429456 c.659T>A p.M220K missense 0.00001647●●●●●●
25. 186429615 c.500C>T p.A167V missense 0.00000824●●●●●●
26. 186429616 c.499G>T p.A167S missense 0.00000824●●●●●●
27. 186444568 c.278C>G p.S93C missense 0.00003394●●●●●●
28. 186456573 c.16A>T p.I6F missense 0.00001241●●●●●●
29. 186427726 c.743G>A p.R248H missense 0.00003300●●●●●●
30. 186423516 c.1027A>G p.T343A missense 0.00037892●●●●●●
31. 186423533 c.1010G>T p.G337V missense 0.00000824●●●●●●
32. 186423546 c.997T>C p.F333L missense 0.00000824●●●●●●
33. 186425734 c.800G>A p.R267H missense 0.00002629●●●●●●
34. 186429582 c.533T>C p.M178T missense 0.00010708●●●●●●
35. 186429675 c.440G>A p.R147H missense 0.00002483●●●●●●
36. 186444589 c.257A>G p.H86R missense 0.00001750●●●●●●
37. 186456566 c.23C>G p.P8R missense 0.00004751●●●●●●
38. 186423461 c.1082A>G p.Y361C missense 0.00001647●●●●●●
39. 186423462 c.1081T>C p.Y361H missense 0.00006590●●●●●●
40. 186423473 c.1070C>T p.T357M missense 0.00006590●●●●●●
41. 186423485 c.1058A>G p.E353G missense 0.00000824●●●●●●
42. 186423486 c.1057G>A p.E353K missense 0.00000824●●●●●●
43. 186423491 c.1052C>T p.P351L missense 0.00000824●●●●●●
44. 186423500 c.1043G>A p.R348H missense 0.00003295●●●●●●
45. 186423501 c.1042C>T p.R348C missense 0.00000824●●●●●●
46. 186423506 c.1037G>C p.R346T missense 0.00000824●●●●●●
47. 186423506 c.1037G>A p.R346K missense 0.00000824●●●●●●
48. 186423513 c.1030C>T p.H344Y missense 0.00000824●●●●●●
49. 186423536 c.1007A>G p.E336G missense 0.00000824●●●●●●
50. 186423539 c.1004T>C p.I335T missense 0.00000824●●●●●●
51. 186423549 c.994T>C p.Y332H missense 0.00000824●●●●●●
52. 186423570 c.973C>T p.L325F missense 0.00000824●●●●●●
53. 186423579 c.964G>A p.D322N missense 0.00001648●●●●●●
54. 186423579 c.964G>T p.D322Y missense 0.00000824●●●●●●
55. 186423588 c.955G>A p.V319M missense 0.00000824●●●●●●
56. 186423592 c.951C>G p.C317W missense 0.00000824●●●●●●
57. 186423599 c.944C>G p.P315R missense 0.00000824●●●●●●
58. 186423599 c.944C>A p.P315H missense 0.00000824●●●●●●
59. 186423600 c.943C>T p.P315S missense 0.00000824●●●●●●
60. 186423600 c.943C>A p.P315T missense 0.00000824●●●●●●
61. 186423605 c.938G>A p.R313Q missense 0.00001649●●●●●●
62. 186423610 c.933G>C p.K311N missense 0.00000824●●●●●●
63. 186423618 c.925C>T p.R309W missense 0.00000825●●●●●●
64. 186423620 c.923C>T p.A308V missense 0.00002474●●●●●●
65. 186423621 c.922G>A p.A308T missense 0.00000825●●●●●●
66. 186423626 c.917T>C p.V306A missense 0.00000825●●●●●●
67. 186425635 c.899G>A p.G300D missense 0.00001660●●●●●●
68. 186425641 c.893G>T p.G298V missense 0.00004972●●●●●●
69. 186425641 c.893G>A p.G298E missense 0.00000829●●●●●●
70. 186425644 c.890G>T p.C297F missense 0.00001656●●●●●●
71. 186425644 c.890G>A p.C297Y missense 0.00000828●●●●●●
72. 186425647 c.887A>G p.K296R missense 0.00000828●●●●●●
73. 186425669 c.865C>G p.Q289E missense 0.00000827●●●●●●
74. 186425671 c.863C>A p.A288E missense 0.00000827●●●●●●
75. 186425675 c.859G>A p.G287R missense 0.00001653●●●●●●
76. 186425683 c.851G>A p.G284D missense 0.00000827●●●●●●
77. 186425684 c.850G>A p.G284S missense 0.00000827●●●●●●
78. 186425687 c.847G>A p.G283S missense 0.00000827●●●●●●
79. 186425701 c.833T>A p.V278E missense 0.00000829●●●●●●
80. 186425710 c.824G>A p.R275K missense 0.00001664●●●●●●
81. 186425716 c.818G>A p.S273N missense 0.00000837●●●●●●
82. 186425719 c.815G>A p.R272Q missense 0.00002520●●●●●●
83. 186425720 c.814C>T p.R272W missense 0.00000840●●●●●●
84. 186425722 c.812C>T p.T271M missense 0.00000844●●●●●●
85. 186425740 c.794A>G p.D265G missense 0.00000896●●●●●●
86. 186427682 c.787G>A p.G263S missense 0.00000824●●●●●●
87. 186427685 c.784G>A p.D262N missense 0.00001649●●●●●●
88. 186427697 c.772G>A p.G258R missense 0.00000825●●●●●●
89. 186427720 c.749C>T p.S250L missense 0.00001650●●●●●●
90. 186427727 c.742C>T p.R248C missense 0.00001650●●●●●●
91. 186427730 c.739C>A p.P247T missense 0.00001650●●●●●●
92. 186427744 c.725A>G p.N242S missense 0.00001652●●●●●●
93. 186427747 c.722G>A p.R241Q missense 0.00011567●●●●●●
94. 186427748 c.721C>T p.R241W missense 0.00001653●●●●●●
95. 186427760 c.709C>T p.L237F missense 0.00000827●●●●●●
96. 186427763 c.706A>C p.M236L missense 0.00000827●●●●●●
97. 186427765 c.704G>A p.R235Q missense 0.00004137●●●●●●
98. 186427766 c.703C>T p.R235W missense 0.00001655●●●●●●
99. 186427772 c.697G>A p.V233M missense 0.00000828●●●●●●
100. 186427777 c.692C>T p.S231L missense 0.00004973●●●●●●
101. 186427792 c.677C>T p.S226L missense 0.00002493●●●●●●
102. 186427805 c.664G>A p.E222K missense 0.00001665●●●●●●
103. 186429507 c.608T>C p.M203T missense 0.00000824●●●●●●
104. 186429519 c.596A>G p.D199G missense 0.00000824●●●●●●
105. 186429547 c.568T>C p.F190L missense 0.00000824●●●●●●
106. 186429560 c.555T>G p.I185M missense 0.00000824●●●●●●
107. 186429568 c.547G>C p.V183L missense 0.00000824●●●●●●
108. 186429631 c.484G>A p.G162S missense 0.00000824●●●●●●
109. 186429639 c.476T>A p.I159N missense 0.00001649●●●●●●
110. 186429640 c.475A>G p.I159V missense 0.00001650●●●●●●
111. 186429658 c.457G>A p.V153I missense 0.00000826●●●●●●
112. 186429669 c.446C>A p.T149N missense 0.00000827●●●●●●
113. 186429672 c.443G>A p.S148N missense 0.00000827●●●●●●
114. 186429676 c.439C>T p.R147C missense 0.00002483●●●●●●
115. 186429693 c.422T>C p.I141T missense 0.00000830●●●●●●
116. 186429697 c.418G>A p.G140R missense 0.00001662●●●●●●
117. 186435425 c.397A>G p.S133G missense 0.00000824●●●●●●
118. 186435457 c.365G>A p.R122Q missense 0.00000824●●●●●●
119. 186435458 c.364C>T p.R122W missense 0.00003295●●●●●●
120. 186435476 c.346G>C p.E116Q missense 0.00004120●●●●●●
121. 186435488 c.334G>A p.G112R missense 0.00002472●●●●●●
122. 186435491 c.331G>A p.D111N missense 0.00001648●●●●●●
123. 186444520 c.326C>G p.P109R missense 0.00000851●●●●●●
124. 186444551 c.295C>T p.H99Y missense 0.00001681●●●●●●
125. 186444592 c.254C>T p.T85I missense 0.00000883●●●●●●
126. 186446183 c.236A>G p.K79R missense 0.00000824●●●●●●
127. 186446202 c.217G>A p.A73T missense 0.00002471●●●●●●
128. 186446225 c.194C>T p.A65V missense 0.00000824●●●●●●
129. 186446227 c.192T>A p.D64E missense 0.00000824●●●●●●
130. 186446235 c.184C>T p.H62Y missense 0.00000824●●●●●●
131. 186446241 c.178A>C p.M60L missense 0.00000824●●●●●●
132. 186446259 c.160G>A p.G54S missense 0.00002471●●●●●●
133. 186446265 c.154A>G p.I52V missense 0.00000824●●●●●●
134. 186446267 c.152C>T p.A51V missense 0.00004942●●●●●●
135. 186446278 c.141T>A p.D47E missense 0.00003295●●●●●●
136. 186446279 c.140A>G p.D47G missense 0.00000824●●●●●●
137. 186446285 c.134C>T p.P45L missense 0.00000824●●●●●●
138. 186456498 c.91A>G p.R31G missense 0.00001181●●●●●●
139. 186456500 c.89C>T p.T30I missense 0.00001159●●●●●●
140. 186456502 c.87C>G p.I29M missense 0.00001142●●●●●●
141. 186456522 c.67T>C p.F23L missense 0.00001044●●●●●●
142. 186456527 c.62T>C p.I21T missense 0.00001040●●●●●●
143. 186456530 c.59G>A p.G20D missense 0.00001042●●●●●●
144. 186456542 c.47G>T p.R16M missense 0.00003177●●●●●●
145. 186456552 c.37T>G p.W13G missense 0.00001107●●●●●●
146. 186456555 c.34C>T p.P12S missense 0.00001111●●●●●●
147. 186456566 c.23C>T p.P8L missense 0.00001188●●●●●●
148. 186456575 c.14T>C p.V5A missense 0.00012636●●●●●●
149. 186456578 c.11C>T p.T4M missense 0.00010341●●●●●●
150. 186423519 c.1024G>T p.E342X nonsense 0.00000824●●●●●●
151. 186444575 c.271C>T p.Q91X nonsense 0.00000853●●●●●●
152. 186444582 c.264G>A p.W88X nonsense 0.00000862●●●●●●
153. 186444596 c.250G>T p.E84X nonsense 0.00000909●●●●●●
154. 186444599 c.247G>T p.G83X nonsense 0.00000930●●●●●●
155. 186446223 c.196C>T p.Q66X nonsense 0.00000824●●●●●●
156. 186456516 c.73C>T p.Q25X nonsense 0.00002109●●●●●●
157. 186423637 c.906C>T p.V302V splice site 0.78301046●●●●●●
158. 186429720 c.399-4A>G splice site 0.00015855●●●●●●
159. 186444600 c.246G>A p.R82R splice site 0.00021531●●●●●●
160. 186444509 c.330+7G>A splice site 0.00006897●●●●●●
161. 186444510 c.330+6C>T splice site 0.00006028●●●●●●
162. 186444609 c.246-9_246-5delTATTT splice site 0.00009592●●●●●●
163. 186429726 c.399-10A>G splice site 0.00013368●●●●●●
164. 186427806 c.663C>T splice site 0.00000832●●●●●●
165. 186429716 c.399T>C splice site 0.00000834●●●●●●
166. 186435489 c.333C>T splice site 0.00014009●●●●●●
167. 186446167 c.245+7C>A splice site 0.00000824●●●●●●
168. 186427807 c.663-1G>A essential splice site 0.00000832●●●●●●
169. 186429719 c.399-3_399-2delCA essential splice site 0.00000834●●●●●●
170. 186435492 c.331-1G>A essential splice site 0.00000824●●●●●●
171. 186444602 c.246-2A>G essential splice site 0.00000949●●●●●●
172. 186456494 c.93+2T>C essential splice site 0.00001231●●●●●●
173. 186446242 c.177_178dupCA frameshift 0.00001647●●●●●●
174. 186425718 c.816dupG p.Ser273GlufsTer23 frameshift 0.00000837●●●●●●
175. 186425729 c.805delG p.Ala269LeufsTer6 frameshift 0.00000858●●●●●●
176. 186435469 c.353_356delAGCA p.Lys118IlefsTer9 frameshift 0.00000824●●●●●●
177. 186444579 c.267_268insA p.Pro90ThrfsTer5 frameshift 0.00000858●●●●●●
178. 186446246 c.173_174delAG p.Glu58ValfsTer6 frameshift 0.00000824●●●●●●
179. 186423539 c.1004_1006delTAG p.I335_E336delinsK inframe 0.00001648●●●●●●
180. 186456574 c.15_41delGATCCTCCCGGGCCCTGCGCCCTGGGG p.Ile6_Gly14del inframe 0.00001081●●●●●●

* 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.