ClinVar Miner

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

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Gene type:
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Total variants: 89
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HGVS dbSNP
NM_177438.2(DICER1):c.1024del (p.Arg342fs) rs1131691218
NM_177438.2(DICER1):c.1144G>T (p.Glu382Ter) rs886037667
NM_177438.2(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.2(DICER1):c.1185_1187delTGAinsC (p.E396Kfs*3) rs886037668
NM_177438.2(DICER1):c.1246G>T (p.Glu416Ter) rs1131691220
NM_177438.2(DICER1):c.1325dup (p.Leu442fs) rs1131691190
NM_177438.2(DICER1):c.1356C>G (p.Tyr452Ter) rs1131691219
NM_177438.2(DICER1):c.1400_1401del (p.Gln467fs) rs1131691203
NM_177438.2(DICER1):c.1408G>T (p.Glu470Ter) rs886037671
NM_177438.2(DICER1):c.1462dup (p.Gln488fs) rs1131691209
NM_177438.2(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.2(DICER1):c.1525C>T (p.Arg509Ter) rs886037672
NM_177438.2(DICER1):c.1726del (p.Thr578fs) rs1555372838
NM_177438.2(DICER1):c.1732dup (p.Thr578fs) rs1131691193
NM_177438.2(DICER1):c.1748_1752delAAAAG rs1131691232
NM_177438.2(DICER1):c.1787delC (p.T596Mfs*21) rs886037678
NM_177438.2(DICER1):c.1827_1828insAG (p.Val610fs) rs886037679
NM_177438.2(DICER1):c.1839del (p.Tyr614fs) rs1131691207
NM_177438.2(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.2(DICER1):c.1880_1883delTCAA (p.I627Tfs*22) rs886037680
NM_177438.2(DICER1):c.1907+1G>A rs1131691217
NM_177438.2(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.2(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.2(DICER1):c.2040+1G>A rs886037683
NM_177438.2(DICER1):c.2062C>T (p.Arg688Ter) rs886037684
NM_177438.2(DICER1):c.2158_2159delGT (p.V720*) rs886037685
NM_177438.2(DICER1):c.2181_2187dup (p.Asp730delinsPheAlaTer) rs1131691213
NM_177438.2(DICER1):c.2243_2244delinsAA (p.Cys748Ter) rs886037687
NM_177438.2(DICER1):c.2247C>A (p.Tyr749Ter) rs886037689
NM_177438.2(DICER1):c.2256+1G>A rs1131691231
NM_177438.2(DICER1):c.2350G>T (p.Glu784Ter) rs1131691210
NM_177438.2(DICER1):c.2392dupA (p.T798Nfs*33) rs886037690
NM_177438.2(DICER1):c.2399del (p.Arg800fs) rs1131691228
NM_177438.2(DICER1):c.2749G>T (p.Glu917Ter) rs886037692
NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.2(DICER1):c.2888_2889delCT (p.P963Rfs*3) rs886037695
NM_177438.2(DICER1):c.2988-1G>T rs1131691192
NM_177438.2(DICER1):c.3019C>T (p.Gln1007Ter) rs1131691189
NM_177438.2(DICER1):c.3073G>T (p.Glu1025Ter) rs1131691225
NM_177438.2(DICER1):c.3135_3137delATCins10 (p.?)
NM_177438.2(DICER1):c.3277_3280delAACT (p.N1093*) rs886037699
NM_177438.2(DICER1):c.3300delA (p.K1100Nfs*44) rs886037700
NM_177438.2(DICER1):c.3345dup (p.Ala1116fs) rs1131691215
NM_177438.2(DICER1):c.3450_3451TG[1] (p.Val1151fs) rs1555369632
NM_177438.2(DICER1):c.3515_3525delTTACAGCAATTinsA (p.L1172Qfs*17) rs886037701
NM_177438.2(DICER1):c.3516_3525delinsA (p.Thr1173_Ile1175del) rs1555369579
NM_177438.2(DICER1):c.3531_3534TCTT[1] (p.Ser1179fs) rs1131691191
NM_177438.2(DICER1):c.3538_3539delTA (p.Y1180Qfs*10) rs886037703
NM_177438.2(DICER1):c.3540C>A (p.Tyr1180Ter) rs886037704
NM_177438.2(DICER1):c.3589delT (p.C1197Afs*6) rs886037706
NM_177438.2(DICER1):c.3658C>T (p.Gln1220Ter) rs886037707
NM_177438.2(DICER1):c.3675C>G (p.Tyr1225Ter) rs184830847
NM_177438.2(DICER1):c.3726C>A (p.Tyr1242Ter) rs886037708
NM_177438.2(DICER1):c.3726C>G (p.Tyr1242Ter) rs886037708
NM_177438.2(DICER1):c.3987_3988AT[1] (p.Tyr1330fs) rs1131691214
NM_177438.2(DICER1):c.4044del (p.Ser1348fs) rs1131691224
NM_177438.2(DICER1):c.4071dup (p.Arg1358fs) rs1131691216
NM_177438.2(DICER1):c.4085dup (p.Lys1363fs) rs1131691195
NM_177438.2(DICER1):c.4130del (p.Pro1377fs) rs34678453
NM_177438.2(DICER1):c.4140G>A (p.Trp1380Ter) rs1131691205
NM_177438.2(DICER1):c.4190G>A (p.Trp1397Ter) rs886037711
NM_177438.2(DICER1):c.4206+1G>T rs765059994
NM_177438.2(DICER1):c.4264dup (p.Glu1422fs) rs1131691202
NM_177438.2(DICER1):c.4285del (p.Trp1429fs) rs1131691222
NM_177438.2(DICER1):c.4309_4312delGACT (p.D1437Mfs*16) rs886037712
NM_177438.2(DICER1):c.4407_4408delTT (p.P1471Ffs*5) rs886037713
NM_177438.2(DICER1):c.4407_4410delTTCT (p.S1470Lfs*19) rs875989784
NM_177438.2(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.2(DICER1):c.4517G>A (p.Trp1506Ter) rs886037716
NM_177438.2(DICER1):c.4533T>A (p.Tyr1511Ter) rs1131691206
NM_177438.2(DICER1):c.4555del (p.Glu1519fs) rs1131691194
NM_177438.2(DICER1):c.4605_4606delTG (p.C1535Wfs*3) rs886037717
NM_177438.2(DICER1):c.4621A>T (p.Lys1541Ter) rs886037718
NM_177438.2(DICER1):c.4637dup (p.Tyr1546Ter) rs1131691221
NM_177438.2(DICER1):c.4654C>T (p.Gln1552Ter) rs1131691208
NM_177438.2(DICER1):c.4657dup (p.Cys1553fs) rs1131691229
NM_177438.2(DICER1):c.4812C>A (p.Cys1604Ter) rs1131691201
NM_177438.2(DICER1):c.4853C>A (p.Ser1618Ter) rs377205344
NM_177438.2(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer) rs1131691200
NM_177438.2(DICER1):c.4960_4961dupGA (p.D1654Efs*7) rs886037720
NM_177438.2(DICER1):c.4984del (p.Ile1663fs) rs1131691196
NM_177438.2(DICER1):c.5104C>T (p.Gln1702Ter) rs886037723
NM_177438.2(DICER1):c.5235del (p.Phe1745fs) rs1131691199
NM_177438.2(DICER1):c.5299delC (p.H1767Mfs*71) rs886037727
NM_177438.2(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup) rs1131691223
NM_177438.2(DICER1):c.877del (p.Arg293fs) rs1131691198
NM_177438.2(DICER1):c.878_881delGAGA (p.R293Ifs*4) rs886037733
NM_177438.2(DICER1):c.937dup (p.Leu313fs) rs1131691212
NM_177438.2(DICER1):c.948_961del (p.Trp316fs) rs1555374817

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