NDRG4 variants in ExAC

NDRG4 gene summary
NDRG4 variants in

The table below lists the NDRG4 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. 58521764 c.132+10A>G splice site 0.01053767●●●●●●
2. 58538556 c.528+3G>A splice site 0.00513349●●●●●●
3. 58542916 c.933+3G>A splice site 0.00335698●●●●●●
4. 58540522 c.672+4A>G splice site 0.00328481●●●●●●
5. 58537777 c.253A>G p.I85V missense 0.00130797●●●●●●
6. 58540525 c.672+7G>C splice site 0.00102366●●●●●●
7. 58541762 c.827C>T p.T276M missense 0.00049677●●●●●●
8. 58541889 c.871G>A p.A291T missense 0.00030302●●●●●●
9. 58538323 c.465C>T p.F155F splice site 0.00022343●●●●●●
10. 58538493 c.468G>A p.G156G splice site 0.00021421●●●●●●
11. 58541707 c.777-5C>G splice site 0.00019317●●●●●●
12. 58540523 c.672+5_672+6insG splice site 0.00018664●●●●●●
13. 58521761 c.132+7T>G splice site 0.00016423●●●●●●
14. 58521760 c.132+6T>C splice site 0.00016327●●●●●●
15. 58541740 c.805G>A p.G269R missense 0.00015768●●●●●●
16. 58538524 c.499G>A p.A167T missense 0.00015654●●●●●●
17. 58545452 c.1148T>C p.V383A missense 0.00013479●●●●●●
18. 58521705 c.83G>A p.R28Q missense 0.00013259●●●●●●
19. 58543055 c.934-3C>T splice site 0.00011543●●●●●●
20. 58540929 c.776+10G>C splice site 0.00010988●●●●●●
21. 58543200 c.970-5C>T splice site 0.00009897●●●●●●
22. 58521652 c.38-8C>T splice site 0.00008652●●●●●●
23. 58538309 c.451G>A p.V151M missense 0.00008271●●●●●●
24. 58521759 c.132+5_132+6insT splice site 0.00008122●●●●●●
25. 58540523 c.672+5G>C splice site 0.00007547●●●●●●
26. 58541713 c.778C>T p.R260C missense 0.00007534●●●●●●
27. 58540523 c.672+5delG splice site 0.00007465●●●●●●
28. 58537747 c.223C>T p.R75W missense 0.00007447●●●●●●
29. 58540310 c.548T>C p.V183A missense 0.00007443●●●●●●
30. 58528863 c.133-5C>T splice site 0.00006799●●●●●●
31. 58521723 c.101C>T p.P34L missense 0.00006765●●●●●●
32. 58521680 c.58A>G p.T20A missense 0.00006736●●●●●●
33. 58540380 c.615+3G>A splice site 0.00006643●●●●●●
34. 58537727 c.203G>A p.G68D missense 0.00006625●●●●●●
35. 58537748 c.224G>A p.R75Q missense 0.00006620●●●●●●
36. 58540873 c.730G>A p.V244M missense 0.00005999●●●●●●
37. 58538324 c.466G>A p.G156R missense 0.00005793●●●●●●
38. 58540303 c.541G>A p.D181N missense 0.00005790●●●●●●
39. 58540486 c.640C>A p.P214T missense 0.00005529●●●●●●
40. 58541898 c.880G>A p.G294R missense 0.00005403●●●●●●
41. 58537807 c.283C>T p.H95Y missense 0.00004989●●●●●●
42. 58537768 c.244C>T p.R82C missense 0.00004965●●●●●●
43. 58541895 c.877G>A p.D293N missense 0.00004483●●●●●●
44. 58545373 c.1069C>T p.L357F missense 0.00004241●●●●●●
45. 58545379 c.1075A>G p.S359G missense 0.00004238●●●●●●
46. 58542894 c.914C>A p.T305N missense 0.00004210●●●●●●
47. 58541714 c.779G>A p.R260H missense 0.00004182●●●●●●
48. 58541767 c.832C>T p.R278C missense 0.00004138●●●●●●
49. 58540489 c.643G>A p.D215N missense 0.00004051●●●●●●
50. 58540524 c.672+6G>T splice site 0.00003789●●●●●●
51. 58540523 c.672+5G>A splice site 0.00003773●●●●●●
52. 58540523 c.672+5G>T splice site 0.00003773●●●●●●
53. 58545347 c.1043G>A p.R348H missense 0.00003447●●●●●●
54. 58528877 c.142G>A p.D48N missense 0.00003408●●●●●●
55. 58543201 c.970-4G>A splice site 0.00003299●●●●●●
56. 58538100 c.326A>C p.Q109P missense 0.00003296●●●●●●
57. 58538508 c.483T>G p.I161M missense 0.00003296●●●●●●
58. 58538507 c.482T>C p.I161T missense 0.00003296●●●●●●
59. 58538132 c.358G>A p.V120M missense 0.00003295●●●●●●
60. 58540506 c.660C>A p.H220Q missense 0.00002838●●●●●●
61. 58541859 c.841G>A p.V281M missense 0.00002574●●●●●●
62. 58540468 c.622G>A p.G208S missense 0.00002560●●●●●●
63. 58540856 c.713G>A p.R238Q missense 0.00002551●●●●●●
64. 58545389 c.1085C>T p.S362L missense 0.00002541●●●●●●
65. 58545398 c.1094G>T p.G365V missense 0.00002539●●●●●●
66. 58545403 c.1099C>T p.R367C missense 0.00002539●●●●●●
67. 58541718 c.783A>C p.R261S missense 0.00002503●●●●●●
68. 58541735 c.800G>A p.R267Q missense 0.00002493●●●●●●
69. 58537710 c.186C>G p.D62E missense 0.00002491●●●●●●
70. 58537769 c.245G>A p.R82H missense 0.00002483●●●●●●
71. 58537760 c.236A>G p.K79R missense 0.00002483●●●●●●
72. 58543212 c.977A>G p.K326R missense 0.00002475●●●●●●
73. 58543199 c.970-6C>T splice site 0.00002474●●●●●●
74. 58538536 c.511G>C p.V171L missense 0.00002472●●●●●●
75. 58538139 c.365C>T p.A122V missense 0.00002472●●●●●●
76. 58540493 c.647C>T p.T216M missense 0.00002216●●●●●●
77. 58540923 c.776+4C>T splice site 0.00002117●●●●●●
78. 58540886 c.743C>A p.A248D missense 0.00001762●●●●●●
79. 58528907 c.172T>G p.W58G missense 0.00001744●●●●●●
80. 58528884 c.149T>C p.F50S missense 0.00001710●●●●●●
81. 58540867 c.724G>A p.G242R missense 0.00001708●●●●●●
82. 58528862 c.133-6C>T splice site 0.00001699●●●●●●
83. 58545460 c.1156A>G p.T386A missense 0.00001685●●●●●●
84. 58537808 c.283+1G>A essential splice site 0.00001664●●●●●●
85. 58541734 c.799C>T p.R267W missense 0.00001662●●●●●●
86. 58537713 c.189C>G p.I63M missense 0.00001660●●●●●●
87. 58541744 c.809C>T p.T270M missense 0.00001659●●●●●●
88. 58541776 c.833+8G>A splice site 0.00001655●●●●●●
89. 58538280 c.422T>C p.M141T missense 0.00001653●●●●●●
90. 58538263 c.405G>A splice site 0.00001652●●●●●●
91. 58538185 c.404+7A>G splice site 0.00001649●●●●●●
92. 58543094 c.969+1G>T essential splice site 0.00001649●●●●●●
93. 58538072 c.298A>G p.N100D missense 0.00001649●●●●●●
94. 58538079 c.305T>G p.F102C missense 0.00001649●●●●●●
95. 58538097 c.323T>G p.M108R missense 0.00001648●●●●●●
96. 58538163 c.389C>T p.S130L missense 0.00001648●●●●●●
97. 58538089 c.315C>G p.F105L missense 0.00001648●●●●●●
98. 58538527 c.502G>A p.G168R missense 0.00001648●●●●●●
99. 58540477 c.631A>G p.S211G missense 0.00001437●●●●●●
100. 58540924 c.776+5G>A splice site 0.00001061●●●●●●
101. 58540923 c.776+4C>G splice site 0.00001058●●●●●●
102. 58540920 c.776+1G>A essential splice site 0.00001034●●●●●●
103. 58540910 c.767T>C p.M256T missense 0.00000962●●●●●●
104. 58541909 c.885+6T>A splice site 0.00000908●●●●●●
105. 58545318 c.1022-8G>A splice site 0.00000899●●●●●●
106. 58540891 c.748C>G p.L250V missense 0.00000892●●●●●●
107. 58541871 c.853G>A p.V285I missense 0.00000866●●●●●●
108. 58528898 c.163G>C p.D55H missense 0.00000865●●●●●●
109. 58528891 c.156G>C p.L52F missense 0.00000858●●●●●●
110. 58540828 c.685_687delAAC p.Asn229del inframe 0.00000856●●●●●●
111. 58541854 c.836G>A p.C279Y missense 0.00000853●●●●●●
112. 58545358 c.1054T>C p.S352P missense 0.00000852●●●●●●
113. 58540837 c.694G>A p.E232K missense 0.00000851●●●●●●
114. 58545361 c.1057C>G p.R353G missense 0.00000851●●●●●●
115. 58528865 c.133-3T>C splice site 0.00000850●●●●●●
116. 58541852 c.834C>A splice site 0.00000850●●●●●●
117. 58542885 c.905T>A p.L302Q missense 0.00000849●●●●●●
118. 58545377 c.1073C>T p.T358I missense 0.00000848●●●●●●
119. 58545421 c.1117C>T p.H373Y missense 0.00000845●●●●●●
120. 58545421 c.1117C>G p.H373D missense 0.00000845●●●●●●
121. 58545424 c.1120T>G p.S374A missense 0.00000844●●●●●●
122. 58542891 c.911C>T p.P304L missense 0.00000844●●●●●●
123. 58545477 c.1173_1174insTGAA frameshift 0.00000843●●●●●●
124. 58545439 c.1135G>A p.G379R missense 0.00000842●●●●●●
125. 58545440 c.1136G>A p.G379E missense 0.00000842●●●●●●
126. 58545461 c.1157C>A p.T386N missense 0.00000842●●●●●●
127. 58545435 c.1131C>G p.S377R missense 0.00000842●●●●●●
128. 58545446 c.1142G>A p.G381D missense 0.00000842●●●●●●
129. 58537696 c.178-6C>G splice site 0.00000837●●●●●●
130. 58541719 c.784G>T p.D262Y missense 0.00000834●●●●●●
131. 58537814 c.283+7G>A splice site 0.00000833●●●●●●
132. 58541732 c.797A>T p.N266I missense 0.00000832●●●●●●
133. 58537808 c.283+1G>C essential splice site 0.00000832●●●●●●
134. 58537804 c.280A>G p.N94D missense 0.00000831●●●●●●
135. 58537801 c.277C>T p.L93F missense 0.00000830●●●●●●
136. 58537714 c.190G>A p.E64K missense 0.00000830●●●●●●
137. 58537794 c.270T>A p.D90E missense 0.00000829●●●●●●
138. 58537723 c.199T>C p.Y67H missense 0.00000828●●●●●●
139. 58542921 c.933+8T>G splice site 0.00000828●●●●●●
140. 58538326 c.467+1G>A essential splice site 0.00000828●●●●●●
141. 58537760 c.236A>T p.K79M missense 0.00000828●●●●●●
142. 58537724 c.200A>T p.Y67F missense 0.00000828●●●●●●
143. 58541768 c.833G>A p.R278H missense 0.00000828●●●●●●
144. 58537772 c.248C>T p.P83L missense 0.00000828●●●●●●
145. 58540356 c.594G>A p.W198X nonsense 0.00000828●●●●●●
146. 58537780 c.256C>G p.L86V missense 0.00000828●●●●●●
147. 58537730 c.206T>C p.L69P missense 0.00000828●●●●●●
148. 58543247 c.1012A>C p.M338L missense 0.00000827●●●●●●
149. 58538315 c.457C>G p.Q153E missense 0.00000827●●●●●●
150. 58543248 c.1013T>C p.M338T missense 0.00000827●●●●●●
151. 58538282 c.424G>A p.E142K missense 0.00000827●●●●●●
152. 58540301 c.539C>A p.P180H missense 0.00000827●●●●●●
153. 58538283 c.425A>G p.E142G missense 0.00000827●●●●●●
154. 58538294 c.436G>T p.A146S missense 0.00000827●●●●●●
155. 58537756 c.232C>T p.P78S missense 0.00000827●●●●●●
156. 58538260 c.405-3C>T splice site 0.00000826●●●●●●
157. 58538255 c.405-8G>A splice site 0.00000826●●●●●●
158. 58538257 c.405-6C>T splice site 0.00000826●●●●●●
159. 58543101 c.969+8_969+9delTT splice site 0.00000825●●●●●●
160. 58543223 c.988G>C p.A330P missense 0.00000825●●●●●●
161. 58538186 c.404+8C>T splice site 0.00000825●●●●●●
162. 58538071 c.297C>A p.F99L missense 0.00000824●●●●●●
163. 58538178 c.404G>A p.G135E missense 0.00000824●●●●●●
164. 58538156 c.382G>C p.G128R missense 0.00000824●●●●●●
165. 58538093 c.319G>A p.D107N missense 0.00000824●●●●●●
166. 58538093 c.319G>C p.D107H missense 0.00000824●●●●●●
167. 58538112 c.338A>G p.K113R missense 0.00000824●●●●●●
168. 58538133 c.359T>G p.V120G missense 0.00000824●●●●●●
169. 58538521 c.496G>A p.G166S missense 0.00000824●●●●●●
170. 58538488 c.468-5A>C splice site 0.00000824●●●●●●
171. 58538160 c.386C>T p.A129V missense 0.00000824●●●●●●
172. 58543054 c.934-4G>A splice site 0.00000824●●●●●●
173. 58538499 c.474G>T p.K158N missense 0.00000824●●●●●●
174. 58543062 c.938C>T p.A313V missense 0.00000824●●●●●●
175. 58538138 c.364G>A p.A122T missense 0.00000824●●●●●●
176. 58538493 c.468G>T splice site 0.00000824●●●●●●
177. 58538168 c.394T>C p.F132L missense 0.00000824●●●●●●
178. 58538177 c.403G>A p.G135R missense 0.00000824●●●●●●
179. 58538487 c.468-6C>T splice site 0.00000824●●●●●●
180. 58538560 c.528+7C>T splice site 0.00000824●●●●●●
181. 58538516 c.491G>C p.G164A 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.