SGCD missense variants in ExAC

SGCD gene summary
SGCD variants in DCM

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