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

* 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.