SCO2 variants in ExAC

SCO2 gene summary
SCO2 variants in

The table below lists the SCO2 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. 50962782 c.59G>C p.R20P missense 0.63925553●●●●●●
2. 50962065 c.776C>T p.A259V missense 0.00292039●●●●●●
3. 50962500 c.341G>A p.R114H missense 0.00077764●●●●●●
4. 50962385 c.456A>T p.E152D missense 0.00052992●●●●●●
5. 50962057 c.784C>T p.R262C missense 0.00022475●●●●●●
6. 50962089 c.752C>T p.S251L missense 0.00018182●●●●●●
7. 50962597 c.244A>G p.K82E missense 0.00013768●●●●●●
8. 50962558 c.283C>T p.R95C missense 0.00011883●●●●●●
9. 50962423 c.418G>A p.E140K missense 0.00009937●●●●●●
10. 50962300 c.541G>A p.V181I missense 0.00009907●●●●●●
11. 50962128 c.713C>T p.T238M missense 0.00009899●●●●●●
12. 50962557 c.284G>A p.R95H missense 0.00008486●●●●●●
13. 50962483 c.358C>T p.R120W missense 0.00008328●●●●●●
14. 50962381 c.460G>A p.E154K missense 0.00008280●●●●●●
15. 50962305 c.536G>A p.R179H missense 0.00008258●●●●●●
16. 50962714 c.127C>G p.P43A missense 0.00007905●●●●●●
17. 50962463 c.378G>A p.M126I missense 0.00007473●●●●●●
18. 50962077 c.764G>T p.R255L missense 0.00006620●●●●●●
19. 50962122 c.719A>G p.Y240C missense 0.00006601●●●●●●
20. 50962684 c.157C>T p.Q53X nonsense 0.00006131●●●●●●
21. 50962605 c.236G>C p.R79T missense 0.00006035●●●●●●
22. 50962395 c.446G>A p.R149Q missense 0.00005796●●●●●●
23. 50962230 c.611G>A p.S204N missense 0.00005770●●●●●●
24. 0 c.-13-5T>C splice site 0.00005718●●●●●●
25. 50962077 c.764G>A p.R255Q missense 0.00004965●●●●●●
26. 50962306 c.535C>T p.R179C missense 0.00004954●●●●●●
27. 50962138 c.703G>A p.G235S missense 0.00004948●●●●●●
28. 50962538 c.303G>C p.Q101H missense 0.00004220●●●●●●
29. 50962507 c.334C>T p.R112W missense 0.00004187●●●●●●
30. 50962281 c.560G>A p.R187K missense 0.00004127●●●●●●
31. 50962551 c.290C>T p.A97V missense 0.00003389●●●●●●
32. 50962362 c.479T>A p.V160E missense 0.00003309●●●●●●
33. 50962320 c.521T>C p.V174A missense 0.00003304●●●●●●
34. 50962114 c.727C>T p.R243W missense 0.00003302●●●●●●
35. 50962117 c.724G>A p.G242S missense 0.00003302●●●●●●
36. 50962198 c.643G>C p.D215H missense 0.00003297●●●●●●
37. 50962177 c.664G>A p.V222M missense 0.00003297●●●●●●
38. 50962225 c.616C>T p.R206C missense 0.00003297●●●●●●
39. 50962815 c.26C>G p.T9R missense 0.00002640●●●●●●
40. 50962735 c.106T>C p.W36R missense 0.00002636●●●●●●
41. 50962725 c.116C>T p.S39L missense 0.00002635●●●●●●
42. 50962573 c.268C>T p.R90X nonsense 0.00002562●●●●●●
43. 50962506 c.335G>A p.R112Q missense 0.00002512●●●●●●
44. 50962440 c.401C>A p.P134H missense 0.00002487●●●●●●
45. 50962074 c.767G>A p.R256Q missense 0.00002484●●●●●●
46. 50962329 c.512G>A p.R171Q missense 0.00002479●●●●●●
47. 50962321 c.520G>A p.V174I missense 0.00002478●●●●●●
48. 50962314 c.527C>T p.A176V missense 0.00002477●●●●●●
49. 50962264 c.577G>A p.G193S missense 0.00002475●●●●●●
50. 50962222 c.619G>A p.V207M missense 0.00002473●●●●●●
51. 50962825 c.16C>T p.R6W missense 0.00001774●●●●●●
52. 50962695 c.146A>C p.Q49P missense 0.00001756●●●●●●
53. 50962800 c.41T>G p.L14R missense 0.00001752●●●●●●
54. 50962782 c.59G>A p.R20Q missense 0.00001732●●●●●●
55. 50962782 c.59G>T p.R20L missense 0.00001732●●●●●●
56. 50962620 c.221C>A p.A74D missense 0.00001729●●●●●●
57. 50962597 c.244_246delAAG p.Lys82del inframe 0.00001719●●●●●●
58. 50962566 c.275A>T p.E92V missense 0.00001701●●●●●●
59. 50962560 c.281T>C p.L94P missense 0.00001698●●●●●●
60. 50962534 c.307G>A p.D103N missense 0.00001687●●●●●●
61. 50962518 c.323A>G p.D108G missense 0.00001679●●●●●●
62. 50962045 c.796T>C p.S266P missense 0.00001678●●●●●●
63. 50962482 c.359G>A p.R120Q missense 0.00001666●●●●●●
64. 50962069 c.772A>G p.M258V missense 0.00001658●●●●●●
65. 50962435 c.406A>C p.I136L missense 0.00001658●●●●●●
66. 50962440 c.401_402delCT frameshift 0.00001658●●●●●●
67. 50962408 c.433G>T p.V145L missense 0.00001656●●●●●●
68. 50962410 c.431T>C p.L144P missense 0.00001656●●●●●●
69. 50962362 c.479T>G p.V160G missense 0.00001654●●●●●●
70. 50962094 c.747G>C p.Q249H missense 0.00001653●●●●●●
71. 50962324 c.517G>A p.D173N missense 0.00001653●●●●●●
72. 50962134 c.707T>C p.L236P missense 0.00001650●●●●●●
73. 50962248 c.593T>C p.V198A missense 0.00001649●●●●●●
74. 50962252 c.589C>G p.Q197E missense 0.00001649●●●●●●
75. 50962224 c.617G>A p.R206H missense 0.00001649●●●●●●
76. 50962831 c.10C>G p.L4V missense 0.00000894●●●●●●
77. 50962820 c.21C>A p.S7R missense 0.00000883●●●●●●
78. 50962819 c.22C>A p.P8T missense 0.00000882●●●●●●
79. 50962812 c.29C>T p.A10V missense 0.00000879●●●●●●
80. 50962728 c.113T>C p.L38S missense 0.00000878●●●●●●
81. 50962693 c.148G>A p.G50S missense 0.00000878●●●●●●
82. 50962692 c.149G>A p.G50D missense 0.00000878●●●●●●
83. 50962720 c.121C>T p.Q41X nonsense 0.00000878●●●●●●
84. 50962687 c.154C>G p.P52A missense 0.00000877●●●●●●
85. 50962777 c.64C>T p.L22F missense 0.00000876●●●●●●
86. 50962797 c.44C>T p.S15F missense 0.00000875●●●●●●
87. 50962794 c.47A>G p.Q16R missense 0.00000875●●●●●●
88. 50962783 c.58C>T p.R20W missense 0.00000873●●●●●●
89. 50962669 c.172C>G p.R58G missense 0.00000873●●●●●●
90. 50962668 c.173G>A p.R58Q missense 0.00000872●●●●●●
91. 50962663 c.178C>T p.R60W missense 0.00000871●●●●●●
92. 50962662 c.179G>A p.R60Q missense 0.00000870●●●●●●
93. 50962652 c.189C>G p.I63M missense 0.00000868●●●●●●
94. 50962642 c.199T>C p.F67L missense 0.00000867●●●●●●
95. 50962645 c.196C>G p.L66V missense 0.00000867●●●●●●
96. 50962630 c.211C>T p.L71F missense 0.00000866●●●●●●
97. 50962635 c.206C>T p.A69V missense 0.00000866●●●●●●
98. 50962627 c.214G>A p.G72S missense 0.00000865●●●●●●
99. 50962614 c.227T>C p.L76P missense 0.00000864●●●●●●
100. 50962620 c.221C>T p.A74V missense 0.00000864●●●●●●
101. 50962609 c.232C>G p.L78V missense 0.00000863●●●●●●
102. 50962603 c.238G>A p.A80T missense 0.00000862●●●●●●
103. 50962605 c.236G>A p.R79K missense 0.00000862●●●●●●
104. 50962576 c.265A>T p.K89X nonsense 0.00000854●●●●●●
105. 50962572 c.269G>T p.R90L missense 0.00000852●●●●●●
106. 50962572 c.269G>A p.R90Q missense 0.00000852●●●●●●
107. 50962568 c.273_279delAGAAGCC p.Glu92CysfsTer32 frameshift 0.00000849●●●●●●
108. 50962552 c.289G>T p.A97S missense 0.00000847●●●●●●
109. 50962536 c.305G>A p.G102D missense 0.00000844●●●●●●
110. 50962514 c.327C>G p.H109Q missense 0.00000839●●●●●●
111. 50962512 c.329G>C p.R110T missense 0.00000838●●●●●●
112. 50962501 c.340C>T p.R114C missense 0.00000836●●●●●●
113. 50962495 c.346A>G p.K116E missense 0.00000835●●●●●●
114. 50962494 c.347A>T p.K116M missense 0.00000834●●●●●●
115. 50962054 c.787A>G p.S263G missense 0.00000834●●●●●●
116. 50962482 c.359G>C p.R120P missense 0.00000833●●●●●●
117. 50962483 c.358delC p.Arg120GlyfsTer6 frameshift 0.00000833●●●●●●
118. 50962056 c.785G>A p.R262H missense 0.00000833●●●●●●
119. 50962471 c.370G>A p.V124M missense 0.00000832●●●●●●
120. 50962064 c.777_779dupGGC p.Ala260dup inframe 0.00000831●●●●●●
121. 50962464 c.377T>C p.M126T missense 0.00000830●●●●●●
122. 50962444 c.397T>A p.C133S missense 0.00000829●●●●●●
123. 50962441 c.400C>G p.P134A missense 0.00000829●●●●●●
124. 50962424 c.417C>G p.D139E missense 0.00000828●●●●●●
125. 50962405 c.436_441dupCAGGTG p.Gln146_Val147dup inframe 0.00000828●●●●●●
126. 50962378 c.463C>G p.P155A missense 0.00000828●●●●●●
127. 50962408 c.433G>A p.V145M missense 0.00000828●●●●●●
128. 50962379 c.462G>T p.E154D missense 0.00000828●●●●●●
129. 50962381 c.460G>C p.E154Q missense 0.00000828●●●●●●
130. 50962075 c.766C>T p.R256W missense 0.00000828●●●●●●
131. 50962387 c.454delG p.Glu152LysfsTer40 frameshift 0.00000828●●●●●●
132. 50962351 c.490T>C p.F164L missense 0.00000827●●●●●●
133. 50962086 c.755_758delACAG p.Asp252ValfsTer24 frameshift 0.00000827●●●●●●
134. 50962333 c.508G>A p.E170K missense 0.00000827●●●●●●
135. 50962351 c.490T>G p.F164V missense 0.00000827●●●●●●
136. 50962362 c.479T>C p.V160A missense 0.00000827●●●●●●
137. 50962085 c.756C>G p.D252E missense 0.00000827●●●●●●
138. 50962366 c.475C>G p.P159A missense 0.00000827●●●●●●
139. 50962329 c.512G>C p.R171P missense 0.00000826●●●●●●
140. 50962330 c.511C>T p.R171W missense 0.00000826●●●●●●
141. 50962104 c.737C>T p.S246L missense 0.00000826●●●●●●
142. 50962104 c.737C>G p.S246W missense 0.00000826●●●●●●
143. 50962335 c.506C>T p.P169L missense 0.00000826●●●●●●
144. 50962308 c.533C>G p.A178G missense 0.00000826●●●●●●
145. 50962261 c.580T>A p.S194T missense 0.00000825●●●●●●
146. 50962297 c.544C>T p.Q182X nonsense 0.00000825●●●●●●
147. 50962239 c.602C>G p.A201G missense 0.00000825●●●●●●
148. 50962240 c.601G>A p.A201T missense 0.00000825●●●●●●
149. 50962129 c.712A>G p.T238A missense 0.00000825●●●●●●
150. 50962258 c.583A>C p.T195P missense 0.00000825●●●●●●
151. 50962114 c.727C>G p.R243G missense 0.00000825●●●●●●
152. 50962113 c.728G>A p.R243Q missense 0.00000825●●●●●●
153. 50962246 c.595G>A p.A199T missense 0.00000825●●●●●●
154. 50962118 c.723C>G p.Y241X nonsense 0.00000825●●●●●●
155. 50962113 c.728G>T p.R243L missense 0.00000825●●●●●●
156. 50962164 c.677T>C p.I226T missense 0.00000824●●●●●●
157. 50962158 c.683T>C p.I228T missense 0.00000824●●●●●●
158. 50962225 c.616delC p.Arg206AlafsTer71 frameshift 0.00000824●●●●●●
159. 50962170 c.671A>G p.H224R 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.