HFE variants in ExAC

HFE gene summary
HFE variants in

The table below lists the HFE 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. 26091336 c.340+4T>C splice site 0.36860026●●●●●●
2. 26091179 c.187C>G p.H63D missense 0.10659924●●●●●●
3. 26093141 c.845G>A p.C282Y missense 0.03243159●●●●●●
4. 26091185 c.193A>T p.S65C missense 0.01008978●●●●●●
5. 26093125 c.829G>A p.E277K missense 0.00390426●●●●●●
6. 26093180 c.884T>C p.V295A missense 0.00074969●●●●●●
7. 26087686 c.18G>C p.R6S missense 0.00067795●●●●●●
8. 26087736 c.68G>A p.R23H missense 0.00059822●●●●●●
9. 26087718 c.50C>T p.T17I missense 0.00044463●●●●●●
10. 26091703 c.502G>C p.E168Q missense 0.00038839●●●●●●
11. 26092966 c.670C>T p.R224W missense 0.00018944●●●●●●
12. 26092946 c.650C>T p.T217I missense 0.00011531●●●●●●
13. 26092967 c.671G>A p.R224Q missense 0.00011531●●●●●●
14. 26091823 c.616+6G>A splice site 0.00011156●●●●●●
15. 26091685 c.484G>T p.A162S missense 0.00010735●●●●●●
16. 26094447 c.1040G>A p.R347H missense 0.00008241●●●●●●
17. 26091697 c.496A>G p.K166E missense 0.00007435●●●●●●
18. 26093461 c.1006+1G>A essential splice site 0.00006648●●●●●●
19. 26093062 c.766G>A p.V256I missense 0.00005766●●●●●●
20. 26091149 c.157G>A p.V53M missense 0.00005766●●●●●●
21. 26091227 c.235A>T p.I79F missense 0.00004942●●●●●●
22. 26093110 c.814G>A p.V272I missense 0.00004118●●●●●●
23. 26091192 c.200G>T p.R67L missense 0.00004118●●●●●●
24. 26091167 c.175G>A p.V59M missense 0.00004118●●●●●●
25. 26087688 c.20C>G p.P7R missense 0.00003349●●●●●●
26. 26091746 c.545A>G p.Y182C missense 0.00003319●●●●●●
27. 26091699 c.498G>C p.K166N missense 0.00003305●●●●●●
28. 26094422 c.1015_1016insG p.Met339SerfsTer8 frameshift 0.00003296●●●●●●
29. 26093422 c.968G>A p.G323E missense 0.00003296●●●●●●
30. 26093406 c.952G>A p.V318I missense 0.00003295●●●●●●
31. 26091192 c.200G>A p.R67H missense 0.00003295●●●●●●
32. 26092982 c.686_688delACT p.Tyr231del inframe 0.00003295●●●●●●
33. 26091204 c.212G>A p.R71Q missense 0.00003295●●●●●●
34. 26087696 c.28_30delCTC p.L10del1 inframe 0.00002511●●●●●●
35. 26091747 c.546_547delCC p.Leu183GlyfsTer60 frameshift 0.00002489●●●●●●
36. 26094417 c.1010G>T p.G337V missense 0.00002472●●●●●●
37. 26093059 c.763G>T p.D255Y missense 0.00002471●●●●●●
38. 26091188 c.196C>T p.R66C missense 0.00002471●●●●●●
39. 26091086 c.94T>C p.Y32H missense 0.00002471●●●●●●
40. 26091203 c.211C>T p.R71X nonsense 0.00002471●●●●●●
41. 26092972 c.676C>T p.R226W missense 0.00002471●●●●●●
42. 26093072 c.776A>G p.N259S missense 0.00002471●●●●●●
43. 26091811 c.610C>A p.Q204K missense 0.00001695●●●●●●
44. 26091810 c.609C>A p.D203E missense 0.00001693●●●●●●
45. 26087731 c.63G>C p.Q21H missense 0.00001683●●●●●●
46. 26087730 c.62A>C p.Q21P missense 0.00001682●●●●●●
47. 26091766 c.565G>A p.A189T missense 0.00001666●●●●●●
48. 26091715 c.514C>A p.H172N missense 0.00001654●●●●●●
49. 26091679 c.478C>A p.P160T missense 0.00001651●●●●●●
50. 26091622 c.421G>A p.D141N missense 0.00001649●●●●●●
51. 26093373 c.919A>G p.I307V missense 0.00001647●●●●●●
52. 26091184 c.192G>T p.E64D missense 0.00001647●●●●●●
53. 26093143 c.847C>A p.Q283K missense 0.00001647●●●●●●
54. 26093023 c.727A>G p.K243E missense 0.00001647●●●●●●
55. 26092973 c.677G>A p.R226Q missense 0.00001647●●●●●●
56. 26091191 c.199C>T p.R67C missense 0.00001647●●●●●●
57. 26092928 c.632A>G p.K211R missense 0.00001647●●●●●●
58. 26093113 c.817C>A p.P273T missense 0.00001647●●●●●●
59. 26093051 c.755A>G p.E252G missense 0.00001647●●●●●●
60. 26093003 c.707C>T p.T236I missense 0.00001647●●●●●●
61. 26093374 c.920T>C p.I307T missense 0.00001647●●●●●●
62. 26091818 c.616+1G>T essential splice site 0.00000853●●●●●●
63. 26087746 c.76+2T>C essential splice site 0.00000845●●●●●●
64. 26087735 c.67C>T p.R23C missense 0.00000842●●●●●●
65. 26087732 c.64G>C p.G22R missense 0.00000842●●●●●●
66. 26087727 c.59T>G p.L20R missense 0.00000841●●●●●●
67. 26087726 c.58C>G p.L20V missense 0.00000840●●●●●●
68. 26087670 c.2T>G p.Met1? missense 0.00000839●●●●●●
69. 26087678 c.10C>G p.R4G missense 0.00000839●●●●●●
70. 26087708 c.40C>G p.L14V missense 0.00000838●●●●●●
71. 26087715 c.47A>G p.Q16R missense 0.00000838●●●●●●
72. 26087672 c.4G>A p.G2S missense 0.00000838●●●●●●
73. 26087697 c.29T>C p.L10P missense 0.00000837●●●●●●
74. 26087681 c.13G>A p.A5T missense 0.00000837●●●●●●
75. 26087693 c.25C>T p.L9F missense 0.00000837●●●●●●
76. 26091775 c.574C>T p.Q192X nonsense 0.00000834●●●●●●
77. 26093463 c.1006+3G>A splice site 0.00000832●●●●●●
78. 26091749 c.548T>C p.L183P missense 0.00000830●●●●●●
79. 26091721 c.520A>G p.I174V missense 0.00000828●●●●●●
80. 26093454 c.1000G>T p.G334C missense 0.00000828●●●●●●
81. 26091720 c.519G>C p.K173N missense 0.00000828●●●●●●
82. 26093454 c.1000G>A p.G334S missense 0.00000828●●●●●●
83. 26091695 c.494C>T p.T165I missense 0.00000826●●●●●●
84. 26091663 c.462T>G p.D154E missense 0.00000825●●●●●●
85. 26091670 c.469G>A p.A157T missense 0.00000825●●●●●●
86. 26091626 c.425G>T p.G142V missense 0.00000825●●●●●●
87. 26093434 c.980T>C p.I327T missense 0.00000825●●●●●●
88. 26091337 c.340+5G>A splice site 0.00000825●●●●●●
89. 26091647 c.446G>T p.C149F missense 0.00000825●●●●●●
90. 26091679 c.478delC p.Arg161GlyfsTer50 frameshift 0.00000825●●●●●●
91. 26092939 c.643C>T p.H215Y missense 0.00000824●●●●●●
92. 26094446 c.1039C>T p.R347C missense 0.00000824●●●●●●
93. 26091270 c.278G>T p.G93V missense 0.00000824●●●●●●
94. 26093377 c.923G>T p.G308V missense 0.00000824●●●●●●
95. 26091281 c.289A>G p.M97V missense 0.00000824●●●●●●
96. 26091189 c.197G>A p.R66H missense 0.00000824●●●●●●
97. 26094435 c.1028T>A p.V343D missense 0.00000824●●●●●●
98. 26093406 c.952G>C p.V318L missense 0.00000824●●●●●●
99. 26091616 c.415G>A p.G139R missense 0.00000824●●●●●●
100. 26093186 c.890G>A p.W297X nonsense 0.00000824●●●●●●
101. 26091212 c.220T>C p.W74R missense 0.00000824●●●●●●
102. 26093350 c.896C>T p.P299L missense 0.00000824●●●●●●
103. 26091129 c.137T>G p.L46W missense 0.00000824●●●●●●
104. 26093077 c.781G>A p.D261N missense 0.00000824●●●●●●
105. 26092963 c.667C>G p.L223V missense 0.00000824●●●●●●
106. 26091590 c.389A>G p.N130S missense 0.00000824●●●●●●
107. 26091275 c.283G>C p.D95H missense 0.00000824●●●●●●
108. 26093384 c.930C>G p.I310M missense 0.00000824●●●●●●
109. 26091312 c.320A>G p.E107G missense 0.00000824●●●●●●
110. 26093150 c.854A>C p.E285A missense 0.00000824●●●●●●
111. 26093026 c.730C>T p.Q244X nonsense 0.00000824●●●●●●
112. 26092985 c.689A>G p.Y230C missense 0.00000824●●●●●●
113. 26091066 c.77-3C>T splice site 0.00000824●●●●●●
114. 26093353 c.899C>A p.S300X nonsense 0.00000824●●●●●●
115. 26093188 c.892G>T p.E298X nonsense 0.00000824●●●●●●
116. 26093086 c.790T>C p.Y264H missense 0.00000824●●●●●●
117. 26092993 c.697C>T p.Q233X nonsense 0.00000824●●●●●●
118. 26092970 c.674G>A p.C225Y missense 0.00000824●●●●●●
119. 26092961 c.665_666delCT p.Leu223ThrfsTer20 frameshift 0.00000824●●●●●●
120. 26091269 c.277delG p.Trp94GlyfsTer117 frameshift 0.00000824●●●●●●
121. 26093388 c.934G>A p.G312R missense 0.00000824●●●●●●
122. 26091330 c.338A>T p.K113M missense 0.00000824●●●●●●
123. 26093348 c.894G>A p.E298E splice site 0.00000824●●●●●●
124. 26093049 c.753C>A p.F251L missense 0.00000824●●●●●●
125. 26091161 c.169C>A p.L57M missense 0.00000824●●●●●●
126. 26093168 c.872A>C p.Q291P missense 0.00000824●●●●●●
127. 26091194 c.202G>A p.V68M missense 0.00000824●●●●●●
128. 26092930 c.634G>A p.V212M missense 0.00000824●●●●●●
129. 26093421 c.967delG p.G323Efs*5 frameshift 0.00000824●●●●●●
130. 26094426 c.1019G>A p.G340E missense 0.00000824●●●●●●
131. 26091281 c.289A>C p.M97L missense 0.00000824●●●●●●
132. 26093350 c.896C>A p.P299H missense 0.00000824●●●●●●
133. 26091263 c.271C>A p.L91M missense 0.00000824●●●●●●
134. 26093116 c.820C>A p.P274T missense 0.00000824●●●●●●
135. 26093088 c.792C>G p.Y264X nonsense 0.00000824●●●●●●
136. 26093003 c.707C>G p.T236S missense 0.00000824●●●●●●
137. 26093394 c.940G>T p.A314S missense 0.00000824●●●●●●
138. 26091598 c.397G>A p.E133K missense 0.00000824●●●●●●
139. 26093398 c.944T>G p.V315G missense 0.00000824●●●●●●
140. 26093168 c.872A>G p.Q291R missense 0.00000824●●●●●●
141. 26091586 c.385G>A p.D129N 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.