ClinVar Miner

List of variants in gene DICER1 reported as pathogenic for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

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Gene type:
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Total variants: 137
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HGVS dbSNP
NC_000014.8:g.(?_95556825)_(95599805_?)del
NM_177438.2(DICER1):c.100C>T (p.Gln34Ter) rs1555376548
NM_177438.2(DICER1):c.1029dup (p.Phe344fs) rs1555374772
NM_177438.2(DICER1):c.1137del (p.Lys379fs) rs1555374734
NM_177438.2(DICER1):c.1144G>T (p.Glu382Ter) rs886037667
NM_177438.2(DICER1):c.1185_1187delinsC (p.Glu396fs) rs886037668
NM_177438.2(DICER1):c.1202dup (p.Tyr401Ter) rs886037669
NM_177438.2(DICER1):c.1280_1283del (p.Lys427fs)
NM_177438.2(DICER1):c.1376+1G>A
NM_177438.2(DICER1):c.1376+1G>T rs886037670
NM_177438.2(DICER1):c.1408G>T (p.Glu470Ter) rs886037671
NM_177438.2(DICER1):c.1417del (p.Tyr473fs) rs1555373228
NM_177438.2(DICER1):c.1501C>T (p.Gln501Ter)
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.1630C>T (p.Arg544Ter) rs137852979
NM_177438.2(DICER1):c.1651G>T (p.Gly551Ter) rs886037673
NM_177438.2(DICER1):c.1684_1685del (p.Met562fs) rs886037674
NM_177438.2(DICER1):c.1694del (p.Asp565fs) rs1555372851
NM_177438.2(DICER1):c.1695_1696del (p.Thr566fs) rs886037675
NM_177438.2(DICER1):c.1706_1710del (p.Ile569fs) rs1060503665
NM_177438.2(DICER1):c.1716del (p.Phe572fs) rs886037676
NM_177438.2(DICER1):c.1747del (p.Glu583fs) rs1060503633
NM_177438.2(DICER1):c.1752+1del rs886037677
NM_177438.2(DICER1):c.1767del (p.Lys589fs) rs1060503662
NM_177438.2(DICER1):c.1787del (p.Thr596fs) rs886037678
NM_177438.2(DICER1):c.1827_1828insAG (p.Val610fs) rs886037679
NM_177438.2(DICER1):c.1847T>A (p.Leu616Ter)
NM_177438.2(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.2(DICER1):c.1880_1883del (p.Ile627fs) rs886037680
NM_177438.2(DICER1):c.1907+1del rs886037681
NM_177438.2(DICER1):c.1910dup (p.Tyr637Ter) rs886037682
NM_177438.2(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.2(DICER1):c.2018C>G (p.Ser673Ter)
NM_177438.2(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.2(DICER1):c.2040+1G>T rs886037683
NM_177438.2(DICER1):c.2062C>T (p.Arg688Ter) rs886037684
NM_177438.2(DICER1):c.2158_2159del (p.Thr719_Val720insTer) rs886037685
NM_177438.2(DICER1):c.2197_2198GA[3] (p.Thr734fs) rs1555371596
NM_177438.2(DICER1):c.2233C>T (p.Arg745Ter) rs1060503584
NM_177438.2(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.2(DICER1):c.2243_2244delinsAA (p.Cys748Ter) rs886037687
NM_177438.2(DICER1):c.2243_2244insACTA (p.Cys748Ter) rs886037688
NM_177438.2(DICER1):c.2245_2248dup (p.Pro750fs) rs1555371565
NM_177438.2(DICER1):c.2247C>A (p.Tyr749Ter) rs886037689
NM_177438.2(DICER1):c.2370_2373dup (p.Leu792fs) rs1555370915
NM_177438.2(DICER1):c.238G>T (p.Glu80Ter)
NM_177438.2(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.2(DICER1):c.2507_2508del (p.Phe836fs) rs1060503628
NM_177438.2(DICER1):c.256del (p.Arg86fs) rs1555376375
NM_177438.2(DICER1):c.2650+1G>T rs886037691
NM_177438.2(DICER1):c.2749G>T (p.Glu917Ter) rs886037692
NM_177438.2(DICER1):c.282_283dup (p.Arg95fs) rs1555376368
NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.2(DICER1):c.2863del (p.Thr955fs) rs886037693
NM_177438.2(DICER1):c.2867_2869delinsAA (p.Pro956fs) rs886037694
NM_177438.2(DICER1):c.2888_2889del (p.Pro963fs) rs886037695
NM_177438.2(DICER1):c.2953del (p.Gln985fs) rs1060503627
NM_177438.2(DICER1):c.2955delinsTT (p.Gln985fs) rs1555370268
NM_177438.2(DICER1):c.2988-1G>T rs1131691192
NM_177438.2(DICER1):c.2988-20_2988del
NM_177438.2(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.2(DICER1):c.3135_3137delinsTGAACTCATG (p.Ser1046fs) rs886037696
NM_177438.2(DICER1):c.3175dup (p.Tyr1059fs) rs886037697
NM_177438.2(DICER1):c.3273C>G (p.Tyr1091Ter) rs886037698
NM_177438.2(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer) rs886037699
NM_177438.2(DICER1):c.3300del (p.Lys1100fs) rs886037700
NM_177438.2(DICER1):c.3349G>T (p.Glu1117Ter) rs1060503617
NM_177438.2(DICER1):c.3402del (p.Gln1135fs)
NM_177438.2(DICER1):c.3515_3525delinsA (p.Leu1172fs) rs886037701
NM_177438.2(DICER1):c.3534_3535insAA (p.Ser1179fs) rs886037702
NM_177438.2(DICER1):c.3538_3539del (p.Tyr1180fs) rs886037703
NM_177438.2(DICER1):c.3540C>A (p.Tyr1180Ter) rs886037704
NM_177438.2(DICER1):c.3579_3580del (p.Asn1193fs) rs886037705
NM_177438.2(DICER1):c.3589del (p.Cys1197fs) rs886037706
NM_177438.2(DICER1):c.3591C>A (p.Cys1197Ter) rs1566768212
NM_177438.2(DICER1):c.3658C>T (p.Gln1220Ter) rs886037707
NM_177438.2(DICER1):c.3676G>T (p.Glu1226Ter) rs748087536
NM_177438.2(DICER1):c.3688C>T (p.Gln1230Ter) rs1566767799
NM_177438.2(DICER1):c.3726C>A (p.Tyr1242Ter) rs886037708
NM_177438.2(DICER1):c.3777dup (p.Val1260fs) rs886037709
NM_177438.2(DICER1):c.3875_3878del (p.Pro1292fs) rs886037710
NM_177438.2(DICER1):c.3909_3910del (p.Ser1304fs)
NM_177438.2(DICER1):c.3957dup (p.Asp1320fs) rs1566766788
NM_177438.2(DICER1):c.4004dup (p.Tyr1335Ter) rs878855262
NM_177438.2(DICER1):c.4031C>G (p.Ser1344Ter) rs1566766572
NM_177438.2(DICER1):c.4130del (p.Pro1377fs) rs34678453
NM_177438.2(DICER1):c.4190G>A (p.Trp1397Ter) rs886037711
NM_177438.2(DICER1):c.4212del (p.Asp1405fs) rs1555367927
NM_177438.2(DICER1):c.4309_4312del (p.Asp1437fs) rs886037712
NM_177438.2(DICER1):c.4401_4402CT[2] (p.Leu1469fs) rs1064795904
NM_177438.2(DICER1):c.4407_4408del (p.Pro1471fs) rs886037713
NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.2(DICER1):c.4426_4427insT (p.Asp1476fs) rs886037714
NM_177438.2(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.2(DICER1):c.4511del (p.Ser1504fs) rs886037715
NM_177438.2(DICER1):c.4517G>A (p.Trp1506Ter) rs886037716
NM_177438.2(DICER1):c.459dup (p.Val154fs) rs1555375978
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.4626del (p.Gln1542fs) rs886037719
NM_177438.2(DICER1):c.4638C>A (p.Tyr1546Ter) rs773822569
NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.2(DICER1):c.4762del (p.Gly1587_Leu1588insTer) rs1566754840
NM_177438.2(DICER1):c.489C>G (p.Tyr163Ter) rs864622626
NM_177438.2(DICER1):c.4960_4961dup (p.Asp1654fs) rs886037720
NM_177438.2(DICER1):c.4999G>T (p.Glu1667Ter) rs1555367522
NM_177438.2(DICER1):c.5053C>T (p.Gln1685Ter) rs886037721
NM_177438.2(DICER1):c.5095+1G>C rs886037722
NM_177438.2(DICER1):c.5096-498_5364+356del
NM_177438.2(DICER1):c.5103C>G (p.Tyr1701Ter) rs875989780
NM_177438.2(DICER1):c.5104C>T (p.Gln1702Ter) rs886037723
NM_177438.2(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.2(DICER1):c.5194dup (p.Leu1732fs) rs886037725
NM_177438.2(DICER1):c.5251_5255del (p.Lys1751fs) rs886037726
NM_177438.2(DICER1):c.5261_5364+79del rs1566749829
NM_177438.2(DICER1):c.5299del (p.His1767fs) rs886037727
NM_177438.2(DICER1):c.5315_5316del (p.Phe1772fs) rs878855274
NM_177438.2(DICER1):c.535del (p.Ala180fs) rs1555375946
NM_177438.2(DICER1):c.5394del (p.Glu1799fs) rs886037728
NM_177438.2(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.2(DICER1):c.5479del (p.Leu1827fs) rs1555366197
NM_177438.2(DICER1):c.5494C>T (p.Gln1832Ter) rs1060503583
NM_177438.2(DICER1):c.5504_5507del (p.Tyr1835fs) rs1566746106
NM_177438.2(DICER1):c.559C>T (p.Arg187Ter) rs763801533
NM_177438.2(DICER1):c.629T>G (p.Leu210Ter) rs886037730
NM_177438.2(DICER1):c.735-1_741delinsA rs886037731
NM_177438.2(DICER1):c.745C>T (p.Gln249Ter) rs886037732
NM_177438.2(DICER1):c.757dup (p.Ile253fs) rs1555375356
NM_177438.2(DICER1):c.823G>T (p.Glu275Ter) rs1555375333
NM_177438.2(DICER1):c.832C>T (p.Leu278Phe) rs768248216
NM_177438.2(DICER1):c.878_881del (p.Arg293fs) rs886037733
NM_177438.2(DICER1):c.901C>T (p.Gln301Ter) rs781144010
NM_177438.2(DICER1):c.947G>A (p.Trp316Ter) rs1555374839
NM_177438.2(DICER1):c.996C>A (p.Tyr332Ter) rs757094384

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