SYNE1 truncating variants in ExAC

SYNE1 gene summary
SYNE1 variants in

The table below lists the SYNE1 truncating 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. 152539540 c.21832-2dupA essential splice site 0.00014849●●●●●●
2. 152841679 c.226-2dupA essential splice site 0.00012461●●●●●●
3. 152651176 c.14431C>T p.R4811X nonsense 0.00004119●●●●●●
4. 152861133 c.91C>T p.R31X nonsense 0.00003296●●●●●●
5. 152631821 c.16683+2T>A essential splice site 0.00002549●●●●●●
6. 152639400 c.16177-2A>C essential splice site 0.00002483●●●●●●
7. 152476025 c.23916+2T>C essential splice site 0.00002482●●●●●●
8. 152652068 c.13539delT p.Thr4514HisfsTer7 frameshift 0.00002475●●●●●●
9. 152652072 c.13535_13536insG p.Ile4512MetfsTer6 frameshift 0.00002475●●●●●●
10. 152697632 c.9229C>T p.Arg3077Ter nonsense 0.00002474●●●●●●
11. 152679583 c.10554delA p.Glu3518AspfsTer39 frameshift 0.00002471●●●●●●
12. 152651320 c.14287C>T p.R4763X nonsense 0.00002471●●●●●●
13. 152461285 c.25114C>T p.R8372X nonsense 0.00002471●●●●●●
14. 152786597 c.1751-2A>C essential splice site 0.00001897●●●●●●
15. 152642498 c.15898C>T p.R5300X nonsense 0.00001660●●●●●●
16. 152702455 c.8716A>T p.R2906X nonsense 0.00001655●●●●●●
17. 152832705 c.330+1G>A essential splice site 0.00001654●●●●●●
18. 152697608 c.9253C>T p.Q3085X nonsense 0.00001649●●●●●●
19. 152443752 c.26069delG p.Arg8690ProfsTer72 frameshift 0.00001648●●●●●●
20. 152832174 c.395T>A p.L132X nonsense 0.00001648●●●●●●
21. 152751745 c.4582C>T p.R1528X nonsense 0.00001648●●●●●●
22. 152782731 c.2415+1G>A essential splice site 0.00001648●●●●●●
23. 152673356 c.11341C>T p.Q3781X nonsense 0.00001647●●●●●●
24. 152542057 c.21568C>T p.R7190X nonsense 0.00001647●●●●●●
25. 152464871 c.24862C>T p.R8288X nonsense 0.00001647●●●●●●
26. 152737701 c.5892delA p.Glu1965ArgfsTer2 frameshift 0.00001647●●●●●●
27. 152751270 c.4786_4789delTACA p.Tyr1596LysfsTer16 frameshift 0.00001399●●●●●●
28. 152576145 c.19127delA p.Asn6376MetfsTer22 frameshift 0.00000918●●●●●●
29. 152632009 c.16498-1G>C essential splice site 0.00000890●●●●●●
30. 152472813 c.24112C>T p.Q8038X nonsense 0.00000866●●●●●●
31. 152552703 c.20650-1G>T essential splice site 0.00000865●●●●●●
32. 152765715 c.3691-2A>G essential splice site 0.00000852●●●●●●
33. 152765714 c.3691-1G>C essential splice site 0.00000848●●●●●●
34. 152642371 c.16023+2T>A essential splice site 0.00000846●●●●●●
35. 152473093 c.24099+1G>A essential splice site 0.00000845●●●●●●
36. 152694347 c.9353dupT p.Leu3118PhefsTer5 frameshift 0.00000843●●●●●●
37. 152809601 c.998G>A p.W333X nonsense 0.00000841●●●●●●
38. 152583172 c.18754C>T p.Q6252X nonsense 0.00000840●●●●●●
39. 152532724 c.22282-1G>T essential splice site 0.00000838●●●●●●
40. 152809530 c.1068+1G>A essential splice site 0.00000835●●●●●●
41. 152558079 c.19859G>A p.W6620X nonsense 0.00000835●●●●●●
42. 152472687 c.24237+1G>C essential splice site 0.00000832●●●●●●
43. 152527498 c.22612-1G>A essential splice site 0.00000832●●●●●●
44. 152443572 c.26249G>A nonsense 0.00000832●●●●●●
45. 152651767 c.13840C>T p.Q4614X nonsense 0.00000831●●●●●●
46. 152676113 c.10630-2A>G essential splice site 0.00000831●●●●●●
47. 152763335 c.3904C>T p.Q1302X nonsense 0.00000831●●●●●●
48. 152841650 c.253C>T p.R85X nonsense 0.00000830●●●●●●
49. 152805983 c.1193delG p.Arg398LysfsTer2 frameshift 0.00000829●●●●●●
50. 152763303 c.3936delG p.Leu1313CysfsTer34 frameshift 0.00000829●●●●●●
51. 152763281 c.3958G>T p.E1320X nonsense 0.00000829●●●●●●
52. 152603064 c.18046delA p.Arg6016GlyfsTer14 frameshift 0.00000829●●●●●●
53. 152553402 c.20500-2A>C essential splice site 0.00000828●●●●●●
54. 152599416 c.18169-1G>A essential splice site 0.00000828●●●●●●
55. 152644874 c.15445-2A>G essential splice site 0.00000827●●●●●●
56. 152560843 c.19681-2A>G essential splice site 0.00000827●●●●●●
57. 152651609 c.13998dupA p.Glu4667ArgfsTer34 frameshift 0.00000827●●●●●●
58. 152473125 c.24068dupA p.Arg8024AlafsTer17 frameshift 0.00000827●●●●●●
59. 152823766 c.909+2T>A essential splice site 0.00000827●●●●●●
60. 152826453 c.682C>T p.R228X nonsense 0.00000827●●●●●●
61. 152826447 c.688G>T p.E230X nonsense 0.00000826●●●●●●
62. 152777180 c.2590-1G>A essential splice site 0.00000826●●●●●●
63. 152697670 c.9191delG p.Gly3064AlafsTer41 frameshift 0.00000826●●●●●●
64. 152454596 c.25672C>T p.Q8558X nonsense 0.00000826●●●●●●
65. 152570304 c.19351C>T p.Q6451X nonsense 0.00000826●●●●●●
66. 152708247 c.8468delA p.Glu2823GlyfsTer2 frameshift 0.00000825●●●●●●
67. 152485461 c.23415-1G>A essential splice site 0.00000825●●●●●●
68. 152697975 c.9103C>T p.R3035X nonsense 0.00000825●●●●●●
69. 152949398 c.67+2T>C essential splice site 0.00000825●●●●●●
70. 152545645 c.21293delA p.Gln7098ArgfsTer30 frameshift 0.00000825●●●●●●
71. 152783872 c.2271+1G>A essential splice site 0.00000825●●●●●●
72. 152711519 c.8094delC p.Leu2699Ter frameshift 0.00000825●●●●●●
73. 152832240 c.331-2A>T essential splice site 0.00000825●●●●●●
74. 152589301 c.18493-1G>C essential splice site 0.00000825●●●●●●
75. 152631870 c.16636C>T p.R5546X nonsense 0.00000825●●●●●●
76. 152652400 c.13207C>T p.R4403X nonsense 0.00000825●●●●●●
77. 152523036 c.22855C>T p.R7619X nonsense 0.00000825●●●●●●
78. 152784544 c.2062C>T p.Q688X nonsense 0.00000825●●●●●●
79. 152652409 c.13198C>T p.Q4400X nonsense 0.00000825●●●●●●
80. 152542144 c.21481C>T p.Q7161X nonsense 0.00000825●●●●●●
81. 152469342 c.24601C>T p.R8201X nonsense 0.00000825●●●●●●
82. 152690199 c.9736C>T p.Q3246X nonsense 0.00000825●●●●●●
83. 152702265 c.8906delT p.Val2969GlyfsTer15 frameshift 0.00000824●●●●●●
84. 152461088 c.25311_25314+12delCAAGGTAGCTGCCCCT essential splice site 0.00000824●●●●●●
85. 152536195 c.21979G>T p.G7327X nonsense 0.00000824●●●●●●
86. 152652555 c.13052dupT p.Ile4352HisfsTer7 frameshift 0.00000824●●●●●●
87. 152792755 c.1630G>T p.E544X nonsense 0.00000824●●●●●●
88. 152461217 c.25182G>A p.W8394X nonsense 0.00000824●●●●●●
89. 152545688 c.21250C>T p.R7084X nonsense 0.00000824●●●●●●
90. 152734589 c.6149delA p.K2050Sfs*8 frameshift 0.00000824●●●●●●
91. 152639214 c.16359+2T>C essential splice site 0.00000824●●●●●●
92. 152717957 c.7530C>A p.C2510X nonsense 0.00000824●●●●●●
93. 152831338 c.592_593insA p.Thr198AsnfsTer69 frameshift 0.00000824●●●●●●
94. 152652562 c.13045C>T p.R4349X nonsense 0.00000824●●●●●●
95. 152563395 c.19660C>T p.Q6554X nonsense 0.00000824●●●●●●
96. 152577767 c.18891+2T>C essential splice site 0.00000824●●●●●●
97. 152470749 c.24292C>T p.Q8098X nonsense 0.00000824●●●●●●
98. 152497632 c.23311C>T p.R7771X nonsense 0.00000824●●●●●●
99. 152651498 c.14109dupA p.Asp4704ArgfsTer32 frameshift 0.00000824●●●●●●
100. 152772238 c.3151C>T p.R1051X nonsense 0.00000824●●●●●●
101. 152690632 c.9646A>T p.K3216X nonsense 0.00000824●●●●●●
102. 152751793 c.4534G>T p.E1512X nonsense 0.00000824●●●●●●
103. 152536197 c.21979-2A>C essential splice site 0.00000824●●●●●●
104. 152621786 c.17459delC p.Ser5820LeufsTer57 frameshift 0.00000824●●●●●●
105. 152497557 c.23386C>T p.Q7796X nonsense 0.00000824●●●●●●
106. 152461297 c.25103-1G>C essential splice site 0.00000824●●●●●●
107. 152540211 c.21758C>A p.S7253X nonsense 0.00000824●●●●●●
108. 152686010 c.10138delC p.Leu3380PhefsTer40 frameshift 0.00000824●●●●●●
109. 152831355 c.575T>G p.L192X nonsense 0.00000824●●●●●●
110. 152652797 c.12810delC p.Asn4271ThrfsTer5 frameshift 0.00000824●●●●●●
111. 152720804 c.7205T>A p.L2402X nonsense 0.00000824●●●●●●
112. 152470677 c.24364C>T p.R8122X nonsense 0.00000824●●●●●●
113. 152646269 c.15394delG p.Glu5132ArgfsTer24 frameshift 0.00000824●●●●●●
114. 152652846 c.12761G>A p.W4254X nonsense 0.00000824●●●●●●
115. 152782842 c.2305C>T p.Q769X nonsense 0.00000824●●●●●●
116. 152771807 c.3369delC p.Tyr1123Ter frameshift 0.00000824●●●●●●
117. 152697567 c.9294dupT p.Asp3099Ter frameshift 0.00000824●●●●●●
118. 152497644 c.23299C>T p.Q7767X nonsense 0.00000824●●●●●●
119. 152737559 c.6034C>T p.R2012X nonsense 0.00000824●●●●●●
120. 152706909 c.8573_8576delAGTT p.Glu2858AlafsTer35 frameshift 0.00000824●●●●●●
121. 152674880 c.10882-1G>A essential splice site 0.00000824●●●●●●
122. 152784515 c.2091G>A p.W697X nonsense 0.00000824●●●●●●
123. 152443729 c.26092C>T p.R8698X nonsense 0.00000824●●●●●●
124. 152712414 c.8023C>T p.Q2675X nonsense 0.00000824●●●●●●
125. 152676024 c.10717C>T p.Q3573X nonsense 0.00000824●●●●●●
126. 152542003 c.21622delG p.V7208Lfs*32 frameshift 0.00000824●●●●●●
127. 152792745 c.1640_1641insC p.Gln548ThrfsTer10 frameshift 0.00000824●●●●●●
128. 152554944 c.20471_20475delTCCCA p.Ile6824SerfsTer13 frameshift 0.00000824●●●●●●
129. 152651530 c.14077C>T p.R4693X nonsense 0.00000824●●●●●●
130. 152462422 c.25018_25019delAA p.Lys8340GlufsTer18 frameshift 0.00000824●●●●●●
131. 152647435 c.15076C>T p.Q5026X nonsense 0.00000824●●●●●●
132. 152728148 c.6744+1G>C essential splice site 0.00000824●●●●●●
133. 152565704 c.19447C>T p.Q6483X nonsense 0.00000824●●●●●●
134. 152686142 c.10006_10009delGTCA p.Val3336AsnfsTer8 frameshift 0.00000824●●●●●●
135. 152583242 c.18684G>A p.W6228X nonsense 0.00000824●●●●●●
136. 152650864 c.14742+1G>T essential splice site 0.00000824●●●●●●
137. 152728275 c.6618G>A p.W2206X nonsense 0.00000824●●●●●●
138. 152576855 c.18918_18919insTA p.His6307TyrfsTer92 frameshift 0.00000824●●●●●●
139. 152671871 c.11570C>G p.S3857X nonsense 0.00000824●●●●●●
140. 152552549 c.20803delC p.Leu6935CysfsTer4 frameshift 0.00000824●●●●●●
141. 152639352 c.16223T>A p.L5408X nonsense 0.00000824●●●●●●
142. 152706930 c.8552dupT p.Met2851IlefsTer41 frameshift 0.00000824●●●●●●
143. 0 c.25314+13T>C essential splice site 0.00000824●●●●●●
144. 152557375 c.20050C>T p.R6684X nonsense 0.00000824●●●●●●
145. 152560794 c.19728_19729delCT p.F6577Qfs*48 frameshift 0.00000824●●●●●●
146. 152716672 c.7712T>A p.L2571X nonsense 0.00000824●●●●●●
147. 152804218 c.1371+2T>C essential splice site 0.00000824●●●●●●
148. 152554975 c.20440delG p.Asp6814IlefsTer8 frameshift 0.00000824●●●●●●
149. 152651547 c.14060T>G p.L4687X nonsense 0.00000824●●●●●●
150. 152501290 c.23228_23229insTA p.Met7743IlefsTer3 frameshift 0.00000824●●●●●●
151. 152831327 c.602+1G>C essential splice site 0.00000824●●●●●●
152. 152690158 c.9777_9778delCA p.His3259GlnfsTer25 frameshift 0.00000824●●●●●●
153. 152485389 c.23486G>A p.W7829X nonsense 0.00000824●●●●●●
154. 152651163 c.14444_14450delGTATAGA p.Ser4815ThrfsTer6 frameshift 0.00000824●●●●●●
155. 152576869 c.18904_18905delAA p.Lys6302GlufsTer12 frameshift 0.00000824●●●●●●
156. 152673250 c.11447G>A p.W3816X nonsense 0.00000824●●●●●●
157. 152831344 c.586C>T p.Q196X nonsense 0.00000824●●●●●●
158. 152861107 c.117_118delTC p.His40SerfsTer15 frameshift 0.00000824●●●●●●
159. 152540193 c.21776delG p.Ser7259IlefsTer32 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.