HSPB7 variants in ExAC

HSPB7 gene summary
HSPB7 variants in

The table below lists the HSPB7 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. 16342103 c.485A>C p.Q162P missense 0.00169632●●●●●●
2. 16342146 c.442A>G p.T148A missense 0.00162696●●●●●●
3. 16344308 c.151G>A p.D51N missense 0.00120138●●●●●●
4. 16344307 c.152A>G p.D51G missense 0.00119757●●●●●●
5. 16343694 c.208G>A p.G70S missense 0.00032179●●●●●●
6. 16344253 c.199+7G>A splice site 0.00015291●●●●●●
7. 16342265 c.334-11C>T splice site 0.00012094●●●●●●
8. 16342220 c.368C>T p.A123V missense 0.00011823●●●●●●
9. 16342124 c.464C>T p.P155L missense 0.00009959●●●●●●
10. 16344290 c.169C>T p.R57W missense 0.00008099●●●●●●
11. 16344343 c.116C>T p.P39L missense 0.00005319●●●●●●
12. 16344353 c.106G>T p.A36S missense 0.00005248●●●●●●
13. 16342194 c.394G>A p.V132M missense 0.00005023●●●●●●
14. 16342095 c.493C>T p.R165W missense 0.00004999●●●●●●
15. 16343710 c.200-8T>A splice site 0.00004948●●●●●●
16. 16343675 c.227A>T p.K76M missense 0.00004944●●●●●●
17. 16344391 c.68C>G p.S23C missense 0.00004176●●●●●●
18. 16342139 c.449G>A p.R150Q missense 0.00004149●●●●●●
19. 16344289 c.170G>A p.R57Q missense 0.00004144●●●●●●
20. 16343580 c.322C>T p.R108W missense 0.00004136●●●●●●
21. 16343661 c.241G>A p.A81T missense 0.00004119●●●●●●
22. 16344355 c.104C>G p.P35R missense 0.00003490●●●●●●
23. 16342226 c.362C>A p.T121N missense 0.00003389●●●●●●
24. 16344361 c.98C>A p.A33D missense 0.00003355●●●●●●
25. 16344373 c.86C>T p.S29L missense 0.00003350●●●●●●
26. 16344380 c.79T>C p.S27P missense 0.00003346●●●●●●
27. 16342110 c.478G>A p.V160I missense 0.00003322●●●●●●
28. 16344253 c.199+7G>T splice site 0.00003058●●●●●●
29. 16344259 c.199+1G>C essential splice site 0.00002727●●●●●●
30. 16342236 c.352G>A p.V118I missense 0.00002581●●●●●●
31. 16344365 c.94C>A p.R32S missense 0.00002516●●●●●●
32. 16344370 c.89C>G p.A30G missense 0.00002514●●●●●●
33. 16344427 c.32C>T p.A11V missense 0.00002510●●●●●●
34. 16343587 c.315C>G p.I105M missense 0.00002476●●●●●●
35. 16344268 c.191C>A p.A64D missense 0.00002215●●●●●●
36. 16344271 c.188T>C p.L63P missense 0.00002046●●●●●●
37. 16344355 c.104C>T p.P35L missense 0.00001745●●●●●●
38. 16342202 c.386C>T p.P129L missense 0.00001679●●●●●●
39. 16342094 c.494G>A p.R165Q missense 0.00001667●●●●●●
40. 16342159 c.429G>T p.E143D missense 0.00001662●●●●●●
41. 16342111 c.477C>G p.H159Q missense 0.00001661●●●●●●
42. 16342118 c.470C>T p.T157I missense 0.00001660●●●●●●
43. 16342131 c.457C>T p.R153C missense 0.00001660●●●●●●
44. 16342130 c.458G>A p.R153H missense 0.00001660●●●●●●
45. 16342133 c.455G>A p.R152Q missense 0.00001660●●●●●●
46. 16343640 c.262G>A p.V88M missense 0.00001648●●●●●●
47. 16344282 c.177C>A p.H59Q missense 0.00001591●●●●●●
48. 16344317 c.142T>C p.F48L missense 0.00000964●●●●●●
49. 16342258 c.334-4C>G splice site 0.00000923●●●●●●
50. 16342250 c.338C>T p.A113V missense 0.00000914●●●●●●
51. 16342243 c.345C>G p.D115E missense 0.00000902●●●●●●
52. 16344338 c.121A>G p.M41V missense 0.00000898●●●●●●
53. 16342228 c.360C>G p.N120K missense 0.00000851●●●●●●
54. 16342228 c.360C>A p.N120K missense 0.00000851●●●●●●
55. 16342224 c.364T>C p.F122L missense 0.00000846●●●●●●
56. 16344456 c.3G>T p.Met1? missense 0.00000845●●●●●●
57. 16344456 c.3G>A p.Met1? missense 0.00000845●●●●●●
58. 16344365 c.94C>T p.R32C missense 0.00000839●●●●●●
59. 16344370 c.89C>A p.A30D missense 0.00000838●●●●●●
60. 16344367 c.92C>T p.S31F missense 0.00000838●●●●●●
61. 16344431 c.28C>T p.R10X nonsense 0.00000837●●●●●●
62. 16344430 c.29G>A p.R10Q missense 0.00000837●●●●●●
63. 16342195 c.393C>G p.D131E missense 0.00000837●●●●●●
64. 16344421 c.38G>C p.R13T missense 0.00000836●●●●●●
65. 16342089 c.499G>C p.E167Q missense 0.00000835●●●●●●
66. 16342181 c.407C>T p.S136L missense 0.00000834●●●●●●
67. 16344402 c.57_59delCTC p.Ser22del inframe 0.00000834●●●●●●
68. 16343566 c.333+3G>A splice site 0.00000833●●●●●●
69. 16342100 c.488C>T p.T163I missense 0.00000832●●●●●●
70. 16342155 c.433G>T p.G145C missense 0.00000831●●●●●●
71. 16342155 c.433G>C p.G145R missense 0.00000831●●●●●●
72. 16342107 c.481C>T p.Gln161Ter nonsense 0.00000831●●●●●●
73. 16342164 c.424C>T p.R142W missense 0.00000831●●●●●●
74. 16342122 c.466C>T p.H156Y missense 0.00000830●●●●●●
75. 16342134 c.454C>T p.R152W missense 0.00000830●●●●●●
76. 16342137 c.451G>A p.A151T missense 0.00000830●●●●●●
77. 16343699 c.203G>A p.R68H missense 0.00000826●●●●●●
78. 16343591 c.311A>C p.H104P missense 0.00000825●●●●●●
79. 16343695 c.207delC p.Gly70ValfsTer9 frameshift 0.00000825●●●●●●
80. 16343697 c.205C>T p.P69S missense 0.00000825●●●●●●
81. 16343592 c.310C>T p.H104Y missense 0.00000825●●●●●●
82. 16343702 c.200C>A p.A67D missense 0.00000824●●●●●●
83. 16343639 c.263dupT p.Arg89GlufsTer6 frameshift 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.