SGCD variants in ExAC

SGCD gene summary
SGCD variants in DCM

The table below lists the SGCD 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. 155935708 c.290G>A p.R97Q missense 0.04508810●●●●●●
2. 155935720 c.294+8T>C splice site 0.00672587●●●●●●
3. 156184726 c.699+11_699+13delAGA splice site 0.00289763●●●●●●
4. 155771510 c.15G>C p.E5D missense 0.00138318●●●●●●
5. 156186376 c.848A>G p.Q283R missense 0.00046959●●●●●●
6. 155756592 c.3+3G>C splice site 0.00028995●●●●●●
7. 156022010 c.451T>G p.S151A missense 0.00025953●●●●●●
8. 155771587 c.92G>A p.R31Q missense 0.00018236●●●●●●
9. 156022017 c.458A>G p.D153G missense 0.00016153●●●●●●
10. 156186321 c.793G>A p.V265I missense 0.00015746●●●●●●
11. 156186283 c.755C>T p.T252M missense 0.00013259●●●●●●
12. 156186360 c.832G>A p.A278T missense 0.00009991●●●●●●
13. 156021953 c.394G>A p.V132I missense 0.00009737●●●●●●
14. 156074553 c.575+7T>G splice site 0.00009716●●●●●●
15. 156022053 c.494G>A p.R165Q missense 0.00009243●●●●●●
16. 156074544 c.573A>G splice site 0.00009200●●●●●●
17. 156186295 c.767C>T p.T256M missense 0.00009114●●●●●●
18. 156074482 c.511G>A p.G171S missense 0.00008716●●●●●●
19. 155771686 c.191T>C p.I64T missense 0.00006663●●●●●●
20. 156184713 c.697G>A p.E233K missense 0.00006038●●●●●●
21. 156074518 c.547G>A p.V183I missense 0.00005546●●●●●●
22. 156074504 c.533T>C p.I178T missense 0.00005465●●●●●●
23. 156186259 c.731C>T p.P244L missense 0.00004975●●●●●●
24. 155935604 c.193-7A>G splice site 0.00004691●●●●●●
25. 155771655 c.160A>G p.I54V missense 0.00004144●●●●●●
26. 156186277 c.749C>T p.S250F missense 0.00004144●●●●●●
27. 155771526 c.31C>T p.R11W missense 0.00004141●●●●●●
28. 156016334 c.382+6A>T splice site 0.00003510●●●●●●
29. 156016324 c.378A>G p.I126M missense 0.00003430●●●●●●
30. 156016316 c.370C>T p.Q124X nonsense 0.00003384●●●●●●
31. 156016308 c.362T>G p.V121G missense 0.00003301●●●●●●
32. 156016286 c.340A>G p.I114V missense 0.00003270●●●●●●
33. 156016300 c.354G>T p.Q118H missense 0.00003268●●●●●●
34. 156074547 c.575+1G>A essential splice site 0.00003151●●●●●●
35. 156074537 c.566A>G p.K189R missense 0.00002935●●●●●●
36. 155935630 c.212G>C p.R71T missense 0.00002612●●●●●●
37. 156186360 c.832G>T p.A278S missense 0.00002498●●●●●●
38. 156186244 c.716C>T p.A239V missense 0.00002490●●●●●●
39. 156186270 c.742C>T p.H248Y missense 0.00002487●●●●●●
40. 155771574 c.79A>G p.I27V missense 0.00002484●●●●●●
41. 156184609 c.593G>A p.R198Q missense 0.00002213●●●●●●
42. 156184643 c.627A>T p.E209D missense 0.00002212●●●●●●
43. 155771690 c.192+3A>G splice site 0.00001668●●●●●●
44. 155771616 c.121C>T p.L41F missense 0.00001657●●●●●●
45. 155771620 c.125T>C p.L42P missense 0.00001657●●●●●●
46. 155756591 c.3+2T>A essential splice site 0.00001657●●●●●●
47. 155771527 c.32G>A p.R11Q missense 0.00001656●●●●●●
48. 155771551 c.56G>A p.G19E missense 0.00001656●●●●●●
49. 155771563 c.68A>G p.Y23C missense 0.00001656●●●●●●
50. 0 c.-43-1G>A essential splice site 0.00001656●●●●●●
51. 156184710 c.694G>A p.G232R missense 0.00001489●●●●●●
52. 156184711 c.695G>A p.G232E missense 0.00001488●●●●●●
53. 156021942 c.383G>A p.G128D missense 0.00001416●●●●●●
54. 156021943 c.384T>C splice site 0.00001400●●●●●●
55. 156184697 c.681delG p.Glu228AsnfsTer9 frameshift 0.00001361●●●●●●
56. 156184593 c.577T>C splice site 0.00001257●●●●●●
57. 156021953 c.394G>T p.V132L missense 0.00001217●●●●●●
58. 156184666 c.650T>C p.M217T missense 0.00001182●●●●●●
59. 156021956 c.397G>C p.E133Q missense 0.00001164●●●●●●
60. 156184649 c.633T>G p.N211K missense 0.00001127●●●●●●
61. 156184647 c.631A>C p.N211H missense 0.00001117●●●●●●
62. 156021960 c.401C>T p.A134V missense 0.00001112●●●●●●
63. 156184638 c.622G>A p.V208M missense 0.00001090●●●●●●
64. 156022052 c.493C>G p.R165G missense 0.00001021●●●●●●
65. 156022047 c.488G>T p.R163I missense 0.00000984●●●●●●
66. 155935603 c.193-8T>C splice site 0.00000942●●●●●●
67. 156022031 c.472G>A p.V158I missense 0.00000919●●●●●●
68. 156022027 c.468A>C p.E156D missense 0.00000913●●●●●●
69. 155935612 c.194A>G p.D65G missense 0.00000909●●●●●●
70. 156022020 c.461A>G p.N154S missense 0.00000900●●●●●●
71. 156022004 c.445C>G p.L149V missense 0.00000897●●●●●●
72. 156022011 c.452C>T p.S151F missense 0.00000895●●●●●●
73. 155935621 c.203G>C p.G68A missense 0.00000886●●●●●●
74. 155935707 c.289C>T p.R97X nonsense 0.00000859●●●●●●
75. 155935644 c.226G>T p.G76C missense 0.00000854●●●●●●
76. 155935688 c.270_272delCGC p.Ala91del inframe 0.00000846●●●●●●
77. 155935683 c.265C>G p.L89V missense 0.00000845●●●●●●
78. 156186379 c.851T>C p.I284T missense 0.00000840●●●●●●
79. 156186378 c.850A>T p.I284L missense 0.00000839●●●●●●
80. 156186369 c.841A>G p.T281A missense 0.00000835●●●●●●
81. 156186367 c.839C>T p.S280F missense 0.00000835●●●●●●
82. 155771691 c.192+4A>G splice site 0.00000834●●●●●●
83. 155771685 c.190A>G p.I64V missense 0.00000833●●●●●●
84. 156186363 c.835G>A p.G279R missense 0.00000833●●●●●●
85. 155771674 c.179T>C p.M60T missense 0.00000831●●●●●●
86. 156186346 c.818T>A p.L273Q missense 0.00000830●●●●●●
87. 156186349 c.821C>T p.S274F missense 0.00000830●●●●●●
88. 155771592 c.97C>T p.R33X nonsense 0.00000829●●●●●●
89. 155771584 c.89G>T p.W30L missense 0.00000829●●●●●●
90. 156186249 c.721A>G p.I241V missense 0.00000829●●●●●●
91. 156186254 c.726G>C p.R242S missense 0.00000829●●●●●●
92. 156186289 c.761C>T p.T254I missense 0.00000829●●●●●●
93. 156186327 c.799G>A p.A267T missense 0.00000829●●●●●●
94. 156186331 c.803A>G p.N268S missense 0.00000829●●●●●●
95. 155771529 c.34A>G p.S12G missense 0.00000828●●●●●●
96. 155771572 c.77G>A p.G26E missense 0.00000828●●●●●●
97. 155771506 c.11A>C p.Q4P missense 0.00000828●●●●●●
98. 155771637 c.142G>T p.V48L missense 0.00000828●●●●●●
99. 155756587 c.1A>G p.Met1? missense 0.00000828●●●●●●
100. 155771554 c.59C>T p.P20L missense 0.00000828●●●●●●
101. 155771556 c.61C>A p.Q21K missense 0.00000828●●●●●●
102. 155771580 c.85G>A p.G29S missense 0.00000828●●●●●●
103. 155771581 c.86G>T p.G29V missense 0.00000828●●●●●●
104. 155771596 c.101G>C p.C34S missense 0.00000828●●●●●●
105. 155756590 c.3+1G>A essential splice site 0.00000828●●●●●●
106. 0 c.-43-7C>T splice site 0.00000828●●●●●●
107. 0 c.-43-3C>A splice site 0.00000828●●●●●●

* 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.