GINS3 missense variants in ExAC

GINS3 gene summary
GINS3 variants in

The table below lists the GINS3 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. 58429094 c.275C>G p.P92R missense 0.01136364●●●●●●
2. 58426663 c.158G>C p.G53A missense 0.00265913●●●●●●
3. 58437167 c.469G>A p.G157R missense 0.00039583●●●●●●
4. 58426654 c.149G>C p.R50P missense 0.00029122●●●●●●
5. 58438586 c.721C>G p.L241V missense 0.00025873●●●●●●
6. 58438457 c.592G>A p.E198K missense 0.00012355●●●●●●
7. 58437132 c.434T>C p.V145A missense 0.00008240●●●●●●
8. 58438421 c.556C>T p.R186C missense 0.00007417●●●●●●
9. 58426527 c.22G>A p.V8M missense 0.00006600●●●●●●
10. 58437077 c.379C>A p.L127I missense 0.00006592●●●●●●
11. 58437195 c.497A>G p.D166G missense 0.00005788●●●●●●
12. 58438490 c.625G>A p.E209K missense 0.00004943●●●●●●
13. 58426630 c.125G>A p.R42H missense 0.00004253●●●●●●
14. 58426578 c.73A>T p.I25F missense 0.00004125●●●●●●
15. 58437060 c.362G>A p.R121Q missense 0.00004121●●●●●●
16. 58426545 c.40G>A p.G14R missense 0.00004121●●●●●●
17. 58438425 c.560G>A p.R187H missense 0.00002472●●●●●●
18. 58437128 c.430A>T p.N144Y missense 0.00002472●●●●●●
19. 58438427 c.562A>G p.I188V missense 0.00002471●●●●●●
20. 58426668 c.163G>A p.E55K missense 0.00002213●●●●●●
21. 58426651 c.146A>T p.E49V missense 0.00001921●●●●●●
22. 58426636 c.131G>A p.G44D missense 0.00001726●●●●●●
23. 58426623 c.118A>G p.M40V missense 0.00001679●●●●●●
24. 58438585 c.720C>G p.N240K missense 0.00001668●●●●●●
25. 58426597 c.92A>G p.K31R missense 0.00001655●●●●●●
26. 58437005 c.307T>G p.S103A missense 0.00001654●●●●●●
27. 58426528 c.23T>A p.V8E missense 0.00001650●●●●●●
28. 58438412 c.547G>A p.G183R missense 0.00001650●●●●●●
29. 58438416 c.551G>A p.R184H missense 0.00001649●●●●●●
30. 58426551 c.46G>A p.E16K missense 0.00001649●●●●●●
31. 58438422 c.557G>A p.R186H missense 0.00001648●●●●●●
32. 58426668 c.163G>C p.E55Q missense 0.00001106●●●●●●
33. 58426665 c.160G>T p.A54S missense 0.00001079●●●●●●
34. 58426663 c.158G>A p.G53D missense 0.00001055●●●●●●
35. 58426660 c.155C>A p.A52E missense 0.00001035●●●●●●
36. 58426654 c.149G>T p.R50L missense 0.00000971●●●●●●
37. 58438623 c.758T>C p.M253T missense 0.00000933●●●●●●
38. 58438622 c.757A>G p.M253V missense 0.00000928●●●●●●
39. 58438619 c.754G>A p.D252N missense 0.00000920●●●●●●
40. 58426642 c.137T>C p.F46S missense 0.00000885●●●●●●
41. 58426639 c.134C>T p.A45V missense 0.00000871●●●●●●
42. 58426627 c.122C>T p.P41L missense 0.00000848●●●●●●
43. 58426625 c.120G>A p.M40I missense 0.00000844●●●●●●
44. 58426620 c.115G>A p.A39T missense 0.00000840●●●●●●
45. 58438589 c.724G>A p.V242I missense 0.00000838●●●●●●
46. 58438584 c.719A>G p.N240S missense 0.00000833●●●●●●
47. 58426606 c.101T>C p.V34A missense 0.00000829●●●●●●
48. 58438575 c.710C>G p.T237R missense 0.00000828●●●●●●
49. 58437194 c.496G>A p.D166N missense 0.00000827●●●●●●
50. 58437194 c.496G>C p.D166H missense 0.00000827●●●●●●
51. 58426519 c.14A>C p.Y5S missense 0.00000826●●●●●●
52. 58438568 c.703C>G p.Q235E missense 0.00000826●●●●●●
53. 58426519 c.14A>G p.Y5C missense 0.00000826●●●●●●
54. 58438563 c.698C>T p.A233V missense 0.00000826●●●●●●
55. 58437026 c.328T>C p.W110R missense 0.00000825●●●●●●
56. 58426574 c.69C>G p.D23E missense 0.00000825●●●●●●
57. 58438551 c.686A>T p.E229V missense 0.00000825●●●●●●
58. 58426536 c.31G>C p.G11R missense 0.00000825●●●●●●
59. 58438557 c.692G>T p.G231V missense 0.00000825●●●●●●
60. 58426525 c.20G>C p.R7P missense 0.00000825●●●●●●
61. 58437128 c.430A>G p.N144D missense 0.00000824●●●●●●
62. 58438514 c.649A>C p.T217P missense 0.00000824●●●●●●
63. 58438464 c.599C>T p.T200I missense 0.00000824●●●●●●
64. 58438454 c.589A>G p.N197D missense 0.00000824●●●●●●
65. 58438483 c.618G>C p.R206S missense 0.00000824●●●●●●
66. 58438547 c.682T>C p.W228R missense 0.00000824●●●●●●
67. 58437059 c.361C>T p.R121W missense 0.00000824●●●●●●
68. 58438526 c.661G>A p.G221R missense 0.00000824●●●●●●
69. 58438421 c.556C>G p.R186G missense 0.00000824●●●●●●
70. 58437080 c.382C>G p.P128A missense 0.00000824●●●●●●
71. 58438475 c.610G>A p.V204I missense 0.00000824●●●●●●
72. 58438455 c.590A>G p.N197S missense 0.00000824●●●●●●
73. 58437129 c.431A>G p.N144S missense 0.00000824●●●●●●
74. 58438540 c.675T>G p.F225L missense 0.00000824●●●●●●
75. 58437084 c.386A>G p.K129R missense 0.00000824●●●●●●
76. 58438493 c.628A>G p.M210V missense 0.00000824●●●●●●
77. 58437149 c.451A>G p.M151V missense 0.00000824●●●●●●
78. 58437069 c.371C>A p.S124Y missense 0.00000824●●●●●●
79. 58438541 c.676C>G p.Q226E 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.