HNRNPM variants in ExAC

HNRNPM gene summary
HNRNPM variants in

The table below lists the HNRNPM 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. 8509905 c.23C>T p.A8V missense 0.00205300●●●●●●
2. 8533651 c.835-7C>G splice site 0.00065328●●●●●●
3. 8553566 c.2030-9C>T splice site 0.00050705●●●●●●
4. 8509965 c.83C>T p.P28L missense 0.00048286●●●●●●
5. 8550777 c.1465G>A p.G489S missense 0.00038289●●●●●●
6. 8528471 c.345-6C>G splice site 0.00035422●●●●●●
7. 8509958 c.76G>A p.G26S missense 0.00034341●●●●●●
8. 8551203 c.1891G>A p.G631R missense 0.00032975●●●●●●
9. 8520279 c.114-10T>G splice site 0.00019118●●●●●●
10. 8520351 c.176A>G p.N59S missense 0.00012359●●●●●●
11. 8550756 c.1444G>A p.G482S missense 0.00010201●●●●●●
12. 8530332 c.563A>G p.N188S missense 0.00009889●●●●●●
13. 8509995 c.113G>A p.G38D missense 0.00009152●●●●●●
14. 8550504 c.1192G>A p.V398I missense 0.00008357●●●●●●
15. 8550556 c.1244_1252delGCATGGAGC p.G415_R418delinsG inframe 0.00008333●●●●●●
16. 8509988 c.106C>G p.P36A missense 0.00008293●●●●●●
17. 8550951 c.1639G>A p.V547M missense 0.00007636●●●●●●
18. 8550563 c.1251G>T p.E417D missense 0.00007527●●●●●●
19. 8538588 c.1038G>A p.M346I missense 0.00006612●●●●●●
20. 8509902 c.20C>T p.A7V missense 0.00006393●●●●●●
21. 8509904 c.22G>A p.A8T missense 0.00006206●●●●●●
22. 8551234 c.1922C>G p.A641G missense 0.00006018●●●●●●
23. 8550807 c.1495G>A p.A499T missense 0.00005964●●●●●●
24. 8551215 c.1903G>A p.A635T missense 0.00005946●●●●●●
25. 8550666 c.1354T>C p.S452P missense 0.00005918●●●●●●
26. 8528509 c.377A>G p.K126R missense 0.00005770●●●●●●
27. 8509949 c.67G>T p.G23C missense 0.00005578●●●●●●
28. 8509923 c.41C>T p.T14M missense 0.00005162●●●●●●
29. 8509941 c.59A>C p.E20A missense 0.00005159●●●●●●
30. 8551098 c.1786A>C p.M596L missense 0.00005137●●●●●●
31. 8551152 c.1840_1842delGGT p.G614del1 inframe 0.00005103●●●●●●
32. 8551161 c.1849G>A p.A617T missense 0.00005084●●●●●●
33. 8509928 c.46A>C p.I16L missense 0.00005068●●●●●●
34. 8550789 c.1477G>A p.G493S missense 0.00004256●●●●●●
35. 8550972 c.1660G>A p.G554S missense 0.00004253●●●●●●
36. 8533718 c.895C>G p.H299D missense 0.00004120●●●●●●
37. 8551246 c.1934C>T p.A645V missense 0.00003474●●●●●●
38. 8551029 c.1717G>A p.A573T missense 0.00003415●●●●●●
39. 8550801 c.1489A>G p.M497V missense 0.00003406●●●●●●
40. 8550841 c.1529G>A p.R510H missense 0.00003403●●●●●●
41. 8551158 c.1846G>A p.G616S missense 0.00003392●●●●●●
42. 8550915 c.1603G>A p.A535T missense 0.00003387●●●●●●
43. 8536218 c.904G>A p.G302S missense 0.00003373●●●●●●
44. 8539060 c.1052G>C p.G351A missense 0.00003333●●●●●●
45. 8538598 c.1042+6_1042+7delAA splice site 0.00003309●●●●●●
46. 8530257 c.488C>T p.T163M missense 0.00003306●●●●●●
47. 8530280 c.511C>G p.P171A missense 0.00003297●●●●●●
48. 8550997 c.1685A>G p.N562S missense 0.00002554●●●●●●
49. 8551145 c.1833_1834insGGTGGC p.Met611_Gly612insGlyGly inframe 0.00002553●●●●●●
50. 8550972 c.1660_1698delGGCCTGGAGCGCATGGGCGCCAACAATCTGGAGCGGATG p.Gly554_Met566del inframe 0.00002552●●●●●●
51. 8551215 c.1903G>T p.A635S missense 0.00002548●●●●●●
52. 8550555 c.1243G>A p.G415S missense 0.00002500●●●●●●
53. 8550546 c.1234G>A p.G412R missense 0.00002497●●●●●●
54. 8539105 c.1097G>C p.G366A missense 0.00002493●●●●●●
55. 8539086 c.1078A>G p.M360V missense 0.00002489●●●●●●
56. 8531112 c.631-7C>T splice site 0.00002473●●●●●●
57. 8528493 c.361A>G p.M121V missense 0.00002472●●●●●●
58. 8551105 c.1793C>T p.P598L missense 0.00001715●●●●●●
59. 8551065 c.1753G>A p.G585S missense 0.00001710●●●●●●
60. 8551116 c.1804G>A p.A602T missense 0.00001710●●●●●●
61. 8551059 c.1747C>T p.R583C missense 0.00001710●●●●●●
62. 8550481 c.1175-6T>C splice site 0.00001707●●●●●●
63. 8550990 c.1678G>A p.A560T missense 0.00001703●●●●●●
64. 8550840 c.1528C>T p.R510C missense 0.00001702●●●●●●
65. 8550780 c.1468A>G p.M490V missense 0.00001701●●●●●●
66. 8550963 c.1651A>G p.M551V missense 0.00001699●●●●●●
67. 8550878 c.1566C>G p.I522M missense 0.00001698●●●●●●
68. 8550724 c.1412G>A p.R471H missense 0.00001698●●●●●●
69. 8550874 c.1562C>G p.A521G missense 0.00001698●●●●●●
70. 8550876 c.1564A>G p.I522V missense 0.00001698●●●●●●
71. 8550685 c.1373G>C p.G458A missense 0.00001694●●●●●●
72. 8550897 c.1585A>G p.M529V missense 0.00001693●●●●●●
73. 8550679 c.1367G>A p.R456H missense 0.00001693●●●●●●
74. 8530222 c.453A>T p.E151D missense 0.00001692●●●●●●
75. 8551202 c.1890C>G p.F630L missense 0.00001691●●●●●●
76. 8550666 c.1354_1355insCCGGCATTGAGCGCATGGGCC p.Ser452_Gly453insGlyIleGluArgMetGlyPro inframe 0.00001691●●●●●●
77. 8536287 c.973G>A p.G325R missense 0.00001691●●●●●●
78. 8550615 c.1303G>A p.E435K missense 0.00001684●●●●●●
79. 8550619 c.1307G>A p.R436H missense 0.00001684●●●●●●
80. 8550621 c.1309A>G p.M437V missense 0.00001683●●●●●●
81. 8530230 c.461G>A p.R154K missense 0.00001678●●●●●●
82. 8536270 c.956A>T p.H319L missense 0.00001674●●●●●●
83. 8536267 c.953A>G p.N318S missense 0.00001673●●●●●●
84. 8528523 c.391G>A p.V131I missense 0.00001651●●●●●●
85. 8530310 c.541C>T p.P181S missense 0.00001648●●●●●●
86. 8520372 c.197A>G p.N66S missense 0.00001648●●●●●●
87. 8531162 c.674G>C p.S225T missense 0.00001647●●●●●●
88. 8528375 c.337-6C>A splice site 0.00001647●●●●●●
89. 8551297 c.1977+8G>A splice site 0.00000937●●●●●●
90. 8551274 c.1962G>T p.Q654H missense 0.00000903●●●●●●
91. 8551275 c.1963A>G p.I655V missense 0.00000903●●●●●●
92. 8551265 c.1953G>T p.K651N missense 0.00000889●●●●●●
93. 8551258 c.1946C>T p.A649V missense 0.00000882●●●●●●
94. 8536310 c.996A>G splice site 0.00000878●●●●●●
95. 8536202 c.896-8C>T splice site 0.00000872●●●●●●
96. 8536305 c.991C>A p.P331T missense 0.00000868●●●●●●
97. 8528576 c.438+6C>T splice site 0.00000864●●●●●●
98. 8536299 c.985A>G p.I329V missense 0.00000858●●●●●●
99. 8551080 c.1768_1812delGAGCGCATGGGCCCTGCCATGGGCCCGGCCCTGGGCGCTGGCATT p.Glu590_Ile604del inframe 0.00000857●●●●●●
100. 8551105 c.1793C>G p.P598R missense 0.00000857●●●●●●
101. 8551080 c.1768G>A p.E590K missense 0.00000857●●●●●●
102. 8551095 c.1783G>A p.A595T missense 0.00000857●●●●●●
103. 8551041 c.1729G>A p.E577K missense 0.00000854●●●●●●
104. 8551045 c.1733G>A p.R578H missense 0.00000854●●●●●●
105. 8551041 c.1729_1743delGAGCGCATGGGCCTG p.Glu577_Leu581del inframe 0.00000854●●●●●●
106. 8551048 c.1736T>G p.M579R missense 0.00000854●●●●●●
107. 8551025 c.1713G>A p.M571I missense 0.00000853●●●●●●
108. 8550813 c.1501A>G p.I501V missense 0.00000852●●●●●●
109. 8550816 c.1504G>A p.D502N missense 0.00000852●●●●●●
110. 8551005 c.1693C>T p.R565W missense 0.00000852●●●●●●
111. 8550996 c.1684A>G p.N562D missense 0.00000851●●●●●●
112. 8550832 c.1520C>A p.T507N missense 0.00000851●●●●●●
113. 8550858 c.1546G>C p.E516Q missense 0.00000851●●●●●●
114. 8550786 c.1474T>C p.F492L missense 0.00000851●●●●●●
115. 8551143 c.1831A>T p.M611L missense 0.00000851●●●●●●
116. 8550987 c.1675G>A p.G559S missense 0.00000851●●●●●●
117. 8550831 c.1519A>T p.T507S missense 0.00000851●●●●●●
118. 8550870 c.1558C>T p.P520S missense 0.00000850●●●●●●
119. 8550864 c.1552A>G p.M518V missense 0.00000850●●●●●●
120. 8550765 c.1453C>T p.R485C missense 0.00000850●●●●●●
121. 8550747 c.1435A>G p.I479V missense 0.00000850●●●●●●
122. 8550768 c.1456A>G p.M486V missense 0.00000850●●●●●●
123. 8550850 c.1538C>G p.S513C missense 0.00000850●●●●●●
124. 8550879 c.1567_1587delGAGCGCATGGGCCTGAGCATG p.Glu523_Met529del inframe 0.00000849●●●●●●
125. 8550738 c.1426A>G p.M476V missense 0.00000849●●●●●●
126. 8551152 c.1840G>A p.G614S missense 0.00000849●●●●●●
127. 8551155 c.1843G>C p.G615R missense 0.00000849●●●●●●
128. 8550720 c.1408G>C p.E470Q missense 0.00000849●●●●●●
129. 8550961 c.1649G>A p.R550H missense 0.00000849●●●●●●
130. 8550879 c.1567G>A p.E523K missense 0.00000849●●●●●●
131. 8550688 c.1376C>T p.P459L missense 0.00000848●●●●●●
132. 8550702 c.1390C>A p.H464N missense 0.00000848●●●●●●
133. 8550946 c.1634G>C p.G545A missense 0.00000848●●●●●●
134. 8550699 c.1387G>A p.D463N missense 0.00000848●●●●●●
135. 8530220 c.451G>C p.E151Q missense 0.00000848●●●●●●
136. 8550949 c.1637C>A p.P546H missense 0.00000848●●●●●●
137. 8550915 c.1603G>T p.A535S missense 0.00000847●●●●●●
138. 8551162 c.1850C>T p.A617V missense 0.00000847●●●●●●
139. 8550896 c.1584C>G p.S528R missense 0.00000847●●●●●●
140. 8550681 c.1369A>G p.M457V missense 0.00000847●●●●●●
141. 8550672 c.1360A>G p.I454V missense 0.00000847●●●●●●
142. 8550918 c.1606G>C p.G536R missense 0.00000847●●●●●●
143. 8550909 c.1597G>A p.V533M missense 0.00000847●●●●●●
144. 8551173 c.1861C>T p.R621C missense 0.00000846●●●●●●
145. 8551174 c.1862G>A p.R621H missense 0.00000846●●●●●●
146. 8550924 c.1612G>A p.G538R missense 0.00000846●●●●●●
147. 8550655 c.1343A>G p.E448G missense 0.00000845●●●●●●
148. 8550651 c.1339G>A p.V447M missense 0.00000845●●●●●●
149. 8550658 c.1346G>A p.R449H missense 0.00000845●●●●●●
150. 8551182 c.1870G>A p.E624K missense 0.00000845●●●●●●
151. 8550651 c.1339G>T p.V447L missense 0.00000845●●●●●●
152. 8550651 c.1339_1340insTGGAGCGCATGGGCTCCGGCA p.Val447_Glu448insGluArgMetGlySerGlyMet inframe 0.00000845●●●●●●
153. 8550652 c.1340T>G p.V447G missense 0.00000845●●●●●●
154. 8550639 c.1327C>T p.R443C missense 0.00000844●●●●●●
155. 8550640 c.1328G>A p.R443H missense 0.00000844●●●●●●
156. 8551192 c.1880G>A p.R627H missense 0.00000844●●●●●●
157. 8551191 c.1879C>T p.R627C missense 0.00000844●●●●●●
158. 8550642 c.1330A>G p.M444V missense 0.00000844●●●●●●
159. 8530226 c.457G>T p.A153S missense 0.00000843●●●●●●
160. 8550597 c.1285C>T p.R429C missense 0.00000840●●●●●●
161. 8550594 c.1282G>A p.D428N missense 0.00000840●●●●●●
162. 8536276 c.962A>G p.N321S missense 0.00000839●●●●●●
163. 8550574 c.1262C>T p.A421V missense 0.00000838●●●●●●
164. 8550567 c.1255A>G p.M419V missense 0.00000836●●●●●●
165. 8550563 c.1251_1252insCGCATGGGC p.Glu417_Arg418insArgMetGly inframe 0.00000836●●●●●●
166. 8550569 c.1257G>C p.M419I missense 0.00000836●●●●●●
167. 8536264 c.950C>T p.A317V missense 0.00000836●●●●●●
168. 8536263 c.949G>A p.A317T missense 0.00000835●●●●●●
169. 8536255 c.941C>T p.P314L missense 0.00000834●●●●●●
170. 8539059 c.1051G>T p.G351W missense 0.00000834●●●●●●
171. 8530380 c.611G>T p.S204I missense 0.00000834●●●●●●
172. 8550559 c.1247T>G p.M416R missense 0.00000834●●●●●●
173. 8539113 c.1105A>C p.M369L missense 0.00000833●●●●●●
174. 8528547 c.415G>A p.G139R missense 0.00000833●●●●●●
175. 8536243 c.929C>T p.P310L missense 0.00000833●●●●●●
176. 8536245 c.931G>A p.G311R missense 0.00000833●●●●●●
177. 8550513 c.1201A>G p.I401V missense 0.00000833●●●●●●
178. 8530377 c.608G>A p.G203E missense 0.00000832●●●●●●
179. 8539067 c.1059_1061delTGG p.Gly356del inframe 0.00000832●●●●●●
180. 8528539 c.407G>A p.S136N missense 0.00000830●●●●●●
181. 8553572 c.2030-3T>C splice site 0.00000829●●●●●●
182. 8538595 c.1042+3A>G splice site 0.00000827●●●●●●
183. 8530362 c.593A>G p.Q198R missense 0.00000827●●●●●●
184. 8538596 c.1042+4A>G splice site 0.00000827●●●●●●
185. 8553583 c.2038_2039delCT p.Leu680ValfsTer18 frameshift 0.00000827●●●●●●
186. 8553585 c.2040_2041insCC p.Tyr681ProfsTer32 frameshift 0.00000827●●●●●●
187. 8533655 c.835-3C>T splice site 0.00000826●●●●●●
188. 8538568 c.1018G>A p.G340R missense 0.00000826●●●●●●
189. 8520298 c.123A>T p.E41D missense 0.00000826●●●●●●
190. 8538545 c.998-3A>G splice site 0.00000826●●●●●●
191. 8533655 c.835-3C>A splice site 0.00000826●●●●●●
192. 8538569 c.1019G>A p.G340E missense 0.00000826●●●●●●
193. 8538545 c.998-3A>C splice site 0.00000826●●●●●●
194. 8538567 c.1017A>G p.I339M missense 0.00000826●●●●●●
195. 8520452 c.277G>A p.E93K missense 0.00000826●●●●●●
196. 8553734 c.2189C>G p.A730G missense 0.00000825●●●●●●
197. 8520318 c.143A>G p.K48R missense 0.00000825●●●●●●
198. 8530348 c.579T>G p.I193M missense 0.00000825●●●●●●
199. 8528518 c.386C>T p.A129V missense 0.00000825●●●●●●
200. 8533666 c.843G>C p.R281S missense 0.00000825●●●●●●
201. 8530260 c.491C>T p.T164I missense 0.00000825●●●●●●
202. 8538551 c.1001T>C p.M334T missense 0.00000825●●●●●●
203. 8548034 c.1121-8T>A splice site 0.00000825●●●●●●
204. 8530349 c.580A>T p.I194F missense 0.00000825●●●●●●
205. 8520303 c.128C>T p.P43L missense 0.00000825●●●●●●
206. 8530266 c.497G>A p.G166E missense 0.00000825●●●●●●
207. 8553608 c.2063A>G p.N688S missense 0.00000825●●●●●●
208. 8530353 c.584A>G p.H195R missense 0.00000825●●●●●●
209. 8531191 c.703A>G p.I235V missense 0.00000824●●●●●●
210. 8530341 c.572A>G p.N191S missense 0.00000824●●●●●●
211. 8530278 c.509G>A p.G170E missense 0.00000824●●●●●●
212. 8528473 c.345-4A>G splice site 0.00000824●●●●●●
213. 8528383 c.339A>T splice site 0.00000824●●●●●●
214. 8553620 c.2075A>C p.K692T missense 0.00000824●●●●●●
215. 8531202 c.714T>G p.D238E missense 0.00000824●●●●●●
216. 8532466 c.832A>G p.M278V missense 0.00000824●●●●●●
217. 8532428 c.794A>G p.N265S missense 0.00000824●●●●●●
218. 8531153 c.665A>T p.E222V missense 0.00000824●●●●●●
219. 8527471 c.336+6_336+9delTGTC splice site 0.00000824●●●●●●
220. 8520380 c.205A>G p.K69E missense 0.00000824●●●●●●
221. 8531198 c.710A>G p.E237G missense 0.00000824●●●●●●
222. 8528477 c.345_347delTGT p.Val117del inframe 0.00000824●●●●●●
223. 8553643 c.2098G>A p.E700K missense 0.00000824●●●●●●
224. 8551958 c.2028C>T splice site 0.00000824●●●●●●
225. 8532451 c.817C>T p.P273S missense 0.00000824●●●●●●
226. 8531153 c.665A>C p.E222A missense 0.00000824●●●●●●
227. 8528395 c.344+7A>G splice site 0.00000824●●●●●●
228. 8528375 c.337-6C>T splice site 0.00000824●●●●●●
229. 8530304 c.535A>G p.I179V missense 0.00000824●●●●●●
230. 8520385 c.210A>T p.R70S missense 0.00000824●●●●●●
231. 8551951 c.2021A>G p.N674S missense 0.00000824●●●●●●
232. 8531213 c.725A>G p.K242R missense 0.00000824●●●●●●
233. 8520324 c.149A>G p.K50R missense 0.00000824●●●●●●
234. 8548078 c.1157T>C p.I386T missense 0.00000824●●●●●●
235. 8533685 c.862_864delTTC p.Phe288del inframe 0.00000824●●●●●●
236. 8553688 c.2143A>G p.M715V missense 0.00000824●●●●●●
237. 8533694 c.871C>T p.P291S missense 0.00000824●●●●●●
238. 8531131 c.643G>C p.V215L missense 0.00000824●●●●●●
239. 8530327 c.558T>A p.N186K missense 0.00000824●●●●●●
240. 8528388 c.344C>T p.A115V missense 0.00000824●●●●●●
241. 8531252 c.764T>G p.I255S missense 0.00000824●●●●●●
242. 8532454 c.820A>T p.M274L missense 0.00000824●●●●●●
243. 8531113 c.631-6G>T splice site 0.00000824●●●●●●
244. 8548072 c.1151A>G p.E384G 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.