ClinVar Miner

List of variants in gene DICER1 reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.2062C>T (p.Arg688Ter) rs886037684 0.00001
NM_177438.3(DICER1):c.4517G>A (p.Trp1506Ter) rs886037716 0.00001
NM_177438.2:c.(734+1_735-1)_(2256+1_2257-1)dup
NM_177438.3(DICER1):c.1006G>T (p.Glu336Ter)
NM_177438.3(DICER1):c.1024del (p.Arg342fs) rs1131691218
NM_177438.3(DICER1):c.1029dup (p.Phe344fs) rs1555374772
NM_177438.3(DICER1):c.1052dup (p.Leu352fs)
NM_177438.3(DICER1):c.1125dup (p.Lys376Ter)
NM_177438.3(DICER1):c.1130del (p.Val377fs)
NM_177438.3(DICER1):c.1144G>T (p.Glu382Ter) rs886037667
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs) rs886037668
NM_177438.3(DICER1):c.1227T>G (p.Tyr409Ter)
NM_177438.3(DICER1):c.1234del (p.Trp412fs) rs1555374679
NM_177438.3(DICER1):c.1246G>T (p.Glu416Ter) rs1131691220
NM_177438.3(DICER1):c.1325dup (p.Leu442fs) rs1131691190
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.3(DICER1):c.1356C>G (p.Tyr452Ter) rs1131691219
NM_177438.3(DICER1):c.1400_1401del (p.Gln467fs) rs1131691203
NM_177438.3(DICER1):c.1408G>T (p.Glu470Ter) rs886037671
NM_177438.3(DICER1):c.1434_1435del (p.Ile479fs)
NM_177438.3(DICER1):c.1462dup (p.Gln488fs) rs1131691209
NM_177438.3(DICER1):c.1501C>T (p.Gln501Ter) rs1595414962
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1509+1G>A
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter) rs886037672
NM_177438.3(DICER1):c.1532_1533del (p.His511fs) rs1595411687
NM_177438.3(DICER1):c.1534G>T (p.Glu512Ter)
NM_177438.3(DICER1):c.1684_1685del (p.Met562fs) rs886037674
NM_177438.3(DICER1):c.1686del (p.Met562fs) rs1595410942
NM_177438.3(DICER1):c.1726del (p.Thr578fs) rs1555372838
NM_177438.3(DICER1):c.1732dup (p.Thr578fs) rs1131691193
NM_177438.3(DICER1):c.1749_1753del (p.Glu583fs) rs1131691232
NM_177438.3(DICER1):c.1751del (p.Lys584fs)
NM_177438.3(DICER1):c.1787del (p.Thr596fs) rs886037678
NM_177438.3(DICER1):c.1827_1828insAG (p.Val610fs) rs886037679
NM_177438.3(DICER1):c.1839del (p.Tyr614fs) rs1131691207
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs) rs886037680
NM_177438.3(DICER1):c.1907+1G>A rs1131691217
NM_177438.3(DICER1):c.1910_1911insGA (p.Tyr637Ter) rs886037682
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.3(DICER1):c.2038dup (p.Val680fs)
NM_177438.3(DICER1):c.2040+1G>A rs886037683
NM_177438.3(DICER1):c.2155del (p.Thr719fs)
NM_177438.3(DICER1):c.2158_2159del (p.Thr719_Val720insTer) rs886037685
NM_177438.3(DICER1):c.2181_2187dup (p.Asp730delinsPheAlaTer) rs1131691213
NM_177438.3(DICER1):c.2243_2244delinsAA (p.Cys748Ter) rs886037687
NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter) rs886037689
NM_177438.3(DICER1):c.2256+1G>A rs1131691231
NM_177438.3(DICER1):c.2350G>T (p.Glu784Ter) rs1131691210
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2399del (p.Arg800fs) rs1131691228
NM_177438.3(DICER1):c.2437-1G>A rs1891616173
NM_177438.3(DICER1):c.2488G>T (p.Glu830Ter)
NM_177438.3(DICER1):c.2504_2505dup (p.Phe836fs) rs2140025659
NM_177438.3(DICER1):c.250C>T (p.Gln84Ter)
NM_177438.3(DICER1):c.2529dup (p.Glu844Ter)
NM_177438.3(DICER1):c.256_257del (p.Arg86fs) rs1595466068
NM_177438.3(DICER1):c.256del (p.Arg86fs) rs1555376375
NM_177438.3(DICER1):c.2651-2A>G rs1060503596
NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter) rs886037692
NM_177438.3(DICER1):c.2759_2760del (p.Phe920fs)
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs) rs886037695
NM_177438.3(DICER1):c.2988-1G>T rs1131691192
NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter) rs1131691189
NM_177438.3(DICER1):c.3038del (p.Pro1013fs)
NM_177438.3(DICER1):c.3045_3054del (p.Ser1015fs) rs1595372666
NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter) rs1131691225
NM_177438.3(DICER1):c.3082C>T (p.Gln1028Ter) rs2139994282
NM_177438.3(DICER1):c.325C>T (p.Gln109Ter)
NM_177438.3(DICER1):c.3268A>T (p.Arg1090Ter)
NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer) rs886037699
NM_177438.3(DICER1):c.3300del (p.Lys1100fs) rs886037700
NM_177438.3(DICER1):c.3300dup (p.Ser1101fs) rs886037700
NM_177438.3(DICER1):c.3304_3311delinsT (p.Ile1102fs) rs1891190597
NM_177438.3(DICER1):c.3345dup (p.Ala1116fs) rs1131691215
NM_177438.3(DICER1):c.3353dup (p.Asn1118fs)
NM_177438.3(DICER1):c.3359_3360insCCAGAACTAATAA (p.Asn1120_Tyr1121insGlnAsnTer)
NM_177438.3(DICER1):c.3402del (p.Gln1135fs) rs1595367266
NM_177438.3(DICER1):c.3403C>T (p.Gln1135Ter) rs755711684
NM_177438.3(DICER1):c.3452_3453del (p.Val1151fs) rs1555369632
NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs) rs886037701
NM_177438.3(DICER1):c.3516_3525delinsA (p.Thr1173_Ile1175del) rs1555369579
NM_177438.3(DICER1):c.3535_3538del (p.Ser1179fs) rs1131691191
NM_177438.3(DICER1):c.3538_3539del (p.Tyr1180fs) rs886037703
NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter) rs886037704
NM_177438.3(DICER1):c.3540C>G (p.Tyr1180Ter)
NM_177438.3(DICER1):c.3540del (p.Ser1179_Tyr1180insTer)
NM_177438.3(DICER1):c.3578del (p.Asn1193fs)
NM_177438.3(DICER1):c.3583_3584del (p.Asp1195fs) rs1595365941
NM_177438.3(DICER1):c.3589del (p.Cys1197fs) rs886037706
NM_177438.3(DICER1):c.3630del (p.Val1211fs)
NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter) rs886037707
NM_177438.3(DICER1):c.3675C>A (p.Tyr1225Ter) rs184830847
NM_177438.3(DICER1):c.3675C>G (p.Tyr1225Ter) rs184830847
NM_177438.3(DICER1):c.3676G>T (p.Glu1226Ter) rs748087536
NM_177438.3(DICER1):c.3688C>T (p.Gln1230Ter) rs1566767799
NM_177438.3(DICER1):c.3710_3711del (p.Leu1237fs)
NM_177438.3(DICER1):c.3726C>A (p.Tyr1242Ter) rs886037708
NM_177438.3(DICER1):c.3726C>G (p.Tyr1242Ter) rs886037708
NM_177438.3(DICER1):c.3802_3806delinsGAAT (p.Ile1268fs)
NM_177438.3(DICER1):c.3856dup (p.Ser1286fs)
NM_177438.3(DICER1):c.3888_3891del (p.Ile1297fs) rs1595364250
NM_177438.3(DICER1):c.3902T>A (p.Leu1301Ter)
NM_177438.3(DICER1):c.3989_3990del (p.Tyr1330fs) rs1131691214
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter) rs878855262
NM_177438.3(DICER1):c.4007del (p.Pro1336fs) rs1891071442
NM_177438.3(DICER1):c.4044del (p.Ser1348fs) rs1131691224
NM_177438.3(DICER1):c.4071dup (p.Arg1358fs) rs1131691216
NM_177438.3(DICER1):c.4085del (p.Lys1362fs) rs1131691195
NM_177438.3(DICER1):c.4085dup (p.Lys1363fs) rs1131691195
NM_177438.3(DICER1):c.408_411del (p.Glu136fs)
NM_177438.3(DICER1):c.4130del (p.Pro1377fs) rs34678453
NM_177438.3(DICER1):c.4140G>A (p.Trp1380Ter) rs1131691205
NM_177438.3(DICER1):c.4190G>A (p.Trp1397Ter) rs886037711
NM_177438.3(DICER1):c.4206+1G>T rs765059994
NM_177438.3(DICER1):c.4264dup (p.Glu1422fs) rs1131691202
NM_177438.3(DICER1):c.4285del (p.Trp1429fs) rs1131691222
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs) rs886037712
NM_177438.3(DICER1):c.4348_4349del (p.Ile1450fs) rs1595341965
NM_177438.3(DICER1):c.4407_4408del (p.Pro1471fs) rs886037713
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter) rs1131691206
NM_177438.3(DICER1):c.4555del (p.Glu1519fs) rs1131691194
NM_177438.3(DICER1):c.459dup (p.Val154fs) rs1555375978
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs) rs886037717
NM_177438.3(DICER1):c.4621A>T (p.Lys1541Ter) rs886037718
NM_177438.3(DICER1):c.4636_4638delinsGA (p.Tyr1546fs) rs1595340380
NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter) rs1131691221
NM_177438.3(DICER1):c.4638C>A (p.Tyr1546Ter) rs773822569
NM_177438.3(DICER1):c.4654C>T (p.Gln1552Ter) rs1131691208
NM_177438.3(DICER1):c.4657dup (p.Cys1553fs) rs1131691229
NM_177438.3(DICER1):c.4712T>G (p.Leu1571Ter)
NM_177438.3(DICER1):c.4796_4800delinsT (p.Arg1599fs)
NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter) rs1131691201
NM_177438.3(DICER1):c.4843_4849dup (p.Leu1617fs)
NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter) rs377205344
NM_177438.3(DICER1):c.485_492del (p.Gly162fs)
NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer) rs1131691200
NM_177438.3(DICER1):c.4933_4942del (p.Pro1645fs)
NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs) rs886037720
NM_177438.3(DICER1):c.4972del (p.Thr1658fs)
NM_177438.3(DICER1):c.4984del (p.Ile1663fs) rs1131691196
NM_177438.3(DICER1):c.5013_5017del (p.Lys1671fs) rs1595337717
NM_177438.3(DICER1):c.5076C>G (p.Tyr1692Ter)
NM_177438.3(DICER1):c.5096-12G>A rs1566750865
NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter) rs875989780
NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter) rs886037723
NM_177438.3(DICER1):c.5164dup (p.Glu1722fs)
NM_177438.3(DICER1):c.5235del (p.Phe1745fs) rs1131691199
NM_177438.3(DICER1):c.5299del (p.His1767fs) rs886037727
NM_177438.3(DICER1):c.535del (p.Ala180fs) rs1555375946
NM_177438.3(DICER1):c.5397del (p.Glu1800fs)
NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup) rs1131691223
NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs) rs1566746106
NM_177438.3(DICER1):c.5527G>A (p.Glu1843Lys)
NM_177438.3(DICER1):c.556del (p.Tyr186fs) rs1595458724
NM_177438.3(DICER1):c.559C>T (p.Arg187Ter) rs763801533
NM_177438.3(DICER1):c.615_618del (p.Thr206fs)
NM_177438.3(DICER1):c.642_643del (p.Cys214_Asp215delinsTer)
NM_177438.3(DICER1):c.66_72del (p.Pro23fs)
NM_177438.3(DICER1):c.787dup (p.Arg263fs)
NM_177438.3(DICER1):c.876_879del (p.Arg293fs) rs1893478668
NM_177438.3(DICER1):c.877del (p.Arg293fs) rs1131691198
NM_177438.3(DICER1):c.878_881del (p.Arg293fs) rs886037733
NM_177438.3(DICER1):c.890dup (p.Leu297fs)
NM_177438.3(DICER1):c.937dup (p.Leu313fs) rs1131691212
NM_177438.3(DICER1):c.948G>A (p.Trp316Ter) rs2140208028
NM_177438.3(DICER1):c.948_961del (p.Trp316fs) rs1555374817

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