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