HNRNPM missense variants in ExAC

HNRNPM gene summary
HNRNPM variants in

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