ClinVar Miner

List of variants in gene DICER1 reported as pathogenic by Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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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_177438.3(DICER1):c.5365-1G>T rs1595315343 0.00001
NM_177438.3(DICER1):c.1024del (p.Arg342fs) rs1131691218
NM_177438.3(DICER1):c.1127_1152del (p.Lys376fs) rs1893215622
NM_177438.3(DICER1):c.1128_1132del (p.Lys376fs) rs1893219311
NM_177438.3(DICER1):c.1144G>T (p.Glu382Ter) rs886037667
NM_177438.3(DICER1):c.1144_1148dup (p.Ile383fs) rs2140204512
NM_177438.3(DICER1):c.1153del (p.Arg385fs) rs1893214804
NM_177438.3(DICER1):c.1165_1174dup (p.Arg392delinsProIleTer) rs1893211484
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_177438.3(DICER1):c.1177C>T (p.Gln393Ter) rs1893210489
NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs) rs886037668
NM_177438.3(DICER1):c.1189_1190del (p.Ser397fs) rs1893209726
NM_177438.3(DICER1):c.1196_1197dup (p.Trp400fs) rs1595438867
NM_177438.3(DICER1):c.1200G>A (p.Trp400Ter) rs1893206922
NM_177438.3(DICER1):c.1202dup (p.Tyr401Ter) rs886037669
NM_177438.3(DICER1):c.1232C>A (p.Ser411Ter) rs1893201715
NM_177438.3(DICER1):c.1284_1285del (p.Lys429fs) rs1893193729
NM_177438.3(DICER1):c.1306dup (p.Ser436fs) rs1595438234
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.3(DICER1):c.1363del (p.Val455fs) rs1893184174
NM_177438.3(DICER1):c.1376+1G>A rs886037670
NM_177438.3(DICER1):c.1376+1G>T rs886037670
NM_177438.3(DICER1):c.1383_1386del (p.Ile461fs) rs1892609218
NM_177438.3(DICER1):c.1408G>T (p.Glu470Ter) rs886037671
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
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.1586del (p.Pro529fs) rs1892498387
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1668del (p.Ile557fs) rs1892488234
NM_177438.3(DICER1):c.1684_1685del (p.Met562fs) rs886037674
NM_177438.3(DICER1):c.1695_1696del (p.Thr566fs) rs886037675
NM_177438.3(DICER1):c.1711del (p.Ser571fs) rs2140123302
NM_177438.3(DICER1):c.1716del (p.Phe572fs) rs886037676
NM_177438.3(DICER1):c.1752+1del rs886037677
NM_177438.3(DICER1):c.1786dup (p.Thr596fs) rs1892394875
NM_177438.3(DICER1):c.1787del (p.Thr596fs) rs886037678
NM_177438.3(DICER1):c.1801_1805dup (p.Asp602fs) rs1892391065
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+1del rs886037681
NM_177438.3(DICER1):c.1910dup (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.2040+1G>C rs886037683
NM_177438.3(DICER1):c.2040+1G>T rs886037683
NM_177438.3(DICER1):c.2117-1G>A rs1891953932
NM_177438.3(DICER1):c.2158_2159del (p.Thr719_Val720insTer) rs886037685
NM_177438.3(DICER1):c.2223_2230del (p.Ser742fs) rs1891939787
NM_177438.3(DICER1):c.2233C>T (p.Arg745Ter) rs1060503584
NM_177438.3(DICER1):c.2243_2244delinsAA (p.Cys748Ter) rs886037687
NM_177438.3(DICER1):c.2243_2244insACTA (p.Cys748Ter) rs886037688
NM_177438.3(DICER1):c.2245_2248dup (p.Pro750fs) rs1555371565
NM_177438.3(DICER1):c.2246_2247insACTA (p.Tyr749Ter) rs1891937602
NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter) rs886037689
NM_177438.3(DICER1):c.2256+1G>C rs1131691231
NM_177438.3(DICER1):c.2268_2271del (p.Glu755_Cys756insTer) rs1891664027
NM_177438.3(DICER1):c.2296dup (p.Gln766fs) rs1891660573
NM_177438.3(DICER1):c.2379T>G (p.Tyr793Ter) rs1595382041
NM_177438.3(DICER1):c.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2399del (p.Arg800fs) rs1131691228
NM_177438.3(DICER1):c.2436+1G>A rs1595381795
NM_177438.3(DICER1):c.2437-1G>A rs1891616173
NM_177438.3(DICER1):c.2437-2A>G rs1060503640
NM_177438.3(DICER1):c.2448dup (p.Pro817fs) rs1891614679
NM_177438.3(DICER1):c.2450del (p.Pro817fs) rs1891613678
NM_177438.3(DICER1):c.2460_2465del (p.Arg821_Ser822del) rs1891610973
NM_177438.3(DICER1):c.2650+1G>T rs886037691
NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter) rs886037692
NM_177438.3(DICER1):c.2771T>G (p.Leu924Ter) rs1891554979
NM_177438.3(DICER1):c.2773G>T (p.Glu925Ter) rs1891554648
NM_177438.3(DICER1):c.2805-1G>T rs1595374375
NM_177438.3(DICER1):c.2808T>G (p.Tyr936Ter) rs768555883
NM_177438.3(DICER1):c.2825del (p.Pro942fs) rs1891411136
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.2863del (p.Thr955fs) rs886037693
NM_177438.3(DICER1):c.2863dup (p.Thr955fs) rs1891405883
NM_177438.3(DICER1):c.2867_2869delinsAA (p.Pro956fs) rs886037694
NM_177438.3(DICER1):c.2867del (p.Pro956fs) rs1397948000
NM_177438.3(DICER1):c.2875A>T (p.Lys959Ter) rs1891403160
NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs) rs886037695
NM_177438.3(DICER1):c.2903_2904del (p.Phe968fs) rs1891400285
NM_177438.3(DICER1):c.2928C>A (p.Tyr976Ter) rs1891397547
NM_177438.3(DICER1):c.2965_2968dup (p.Val990fs) rs1891391133
NM_177438.3(DICER1):c.2987+1G>A rs1555370248
NM_177438.3(DICER1):c.2988-2_2988-1inv
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter) rs1131691189
NM_177438.3(DICER1):c.3033_3045del (p.Leu1012fs) rs1891358446
NM_177438.3(DICER1):c.3046del (p.Ser1016fs) rs1891358172
NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter) rs1131691225
NM_177438.3(DICER1):c.3079_3080dup (p.Gln1028fs) rs1891354217
NM_177438.3(DICER1):c.3082C>T (p.Gln1028Ter) rs2139994282
NM_177438.3(DICER1):c.3091C>T (p.Gln1031Ter) rs1891353130
NM_177438.3(DICER1):c.3135_3137delinsTGAACTCATG (p.Ser1046fs) rs886037696
NM_177438.3(DICER1):c.3143G>A (p.Trp1048Ter) rs1891304588
NM_177438.3(DICER1):c.3175dup (p.Tyr1059fs) rs886037697
NM_177438.3(DICER1):c.3176_3177dup (p.Arg1060fs) rs1891300902
NM_177438.3(DICER1):c.3237_3238insCCAGCAT (p.Val1080fs) rs1891292616
NM_177438.3(DICER1):c.3270-6_4051-1280delinsG
NM_177438.3(DICER1):c.3273C>G (p.Tyr1091Ter) rs886037698
NM_177438.3(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer) rs886037699
NM_177438.3(DICER1):c.3280_3281del (p.Leu1094fs) rs1891196863
NM_177438.3(DICER1):c.3281del (p.Asn1093_Leu1094insTer) rs1891196616
NM_177438.3(DICER1):c.3288_3289insTTTC (p.Gly1097fs) rs1891196015
NM_177438.3(DICER1):c.328_338dup (p.Arg114fs) rs1893958393
NM_177438.3(DICER1):c.3300del (p.Lys1100fs) rs886037700
NM_177438.3(DICER1):c.3300dup (p.Ser1101fs) rs886037700
NM_177438.3(DICER1):c.3307_3311del (p.Asp1103fs) rs1891190344
NM_177438.3(DICER1):c.3312_3313dup (p.Lys1105fs) rs1891189470
NM_177438.3(DICER1):c.3405dup (p.Gly1136fs) rs1891173247
NM_177438.3(DICER1):c.3452_3453del (p.Val1151fs) rs1555369632
NM_177438.3(DICER1):c.3482del (p.Pro1161fs) rs1891157230
NM_177438.3(DICER1):c.3505del (p.Ser1169fs) rs1891152911
NM_177438.3(DICER1):c.3505dup (p.Ser1169fs) rs1891152911
NM_177438.3(DICER1):c.3515_3525delinsA (p.Leu1172fs) rs886037701
NM_177438.3(DICER1):c.3534_3535insAA (p.Ser1179fs) rs886037702
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.3579_3580del (p.Asn1193fs) rs886037705
NM_177438.3(DICER1):c.3583_3584del (p.Asp1195fs) rs1595365941
NM_177438.3(DICER1):c.3589del (p.Cys1197fs) rs886037706
NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs) rs886037651
NM_177438.3(DICER1):c.3647C>A (p.Ser1216Ter) rs1891128178
NM_177438.3(DICER1):c.3658C>T (p.Gln1220Ter) rs886037707
NM_177438.3(DICER1):c.3665del (p.Leu1222fs) rs1595365532
NM_177438.3(DICER1):c.3665dup (p.Leu1222fs) rs1595365532
NM_177438.3(DICER1):c.3669C>G (p.Tyr1223Ter) rs746674986
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.3726C>A (p.Tyr1242Ter) rs886037708
NM_177438.3(DICER1):c.3749del (p.Ser1250fs) rs1891110127
NM_177438.3(DICER1):c.3777dup (p.Val1260fs) rs886037709
NM_177438.3(DICER1):c.3793del (p.Thr1265fs) rs1891101628
NM_177438.3(DICER1):c.3860C>G (p.Ser1287Ter) rs1263628434
NM_177438.3(DICER1):c.3875_3878del (p.Pro1292fs) rs886037710
NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs) rs886037650
NM_177438.3(DICER1):c.3970_3971delinsC (p.Lys1324fs) rs1891076536
NM_177438.3(DICER1):c.3999C>A (p.Cys1333Ter) rs1891073366
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter) rs878855262
NM_177438.3(DICER1):c.4007del (p.Pro1336fs) rs1891071442
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4050+1del rs1891064076
NM_177438.3(DICER1):c.4190G>A (p.Trp1397Ter) rs886037711
NM_177438.3(DICER1):c.4207-41_5364+1034del
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs) rs886037712
NM_177438.3(DICER1):c.4403_4406del (p.Ser1468fs) rs1064795904
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.4426_4427insT (p.Asp1476fs) rs886037714
NM_177438.3(DICER1):c.4440_4442dup (p.Trp1481Ter) rs1890349244
NM_177438.3(DICER1):c.4442G>A (p.Trp1481Ter) rs1595341418
NM_177438.3(DICER1):c.4458del (p.Lys1486fs) rs1131691197
NM_177438.3(DICER1):c.4511del (p.Ser1504fs) rs886037715
NM_177438.3(DICER1):c.4555del (p.Glu1519fs) rs1131691194
NM_177438.3(DICER1):c.4566_4570dup (p.Val1524fs) rs1890334025
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.4626del (p.Gln1542fs) rs886037719
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4651_4652insTGCT (p.Glu1551fs) rs1890324311
NM_177438.3(DICER1):c.4684_4685insC (p.Cys1562fs) rs1890320100
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter) rs1131691201
NM_177438.3(DICER1):c.4910C>A (p.Ser1637Ter) rs140875148
NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer) rs1131691200
NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs) rs886037720
NM_177438.3(DICER1):c.4999G>T (p.Glu1667Ter) rs1555367522
NM_177438.3(DICER1):c.5017dup (p.Ile1673fs) rs1890266885
NM_177438.3(DICER1):c.5018_5021del (p.Ile1673fs) rs1890265960
NM_177438.3(DICER1):c.5023_5025delinsAG (p.Tyr1675fs) rs1890264859
NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter) rs886037721
NM_177438.3(DICER1):c.5095+1G>C rs886037722
NM_177438.3(DICER1):c.5096-498_5364+356del
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_177438.3(DICER1):c.5104C>T (p.Gln1702Ter) rs886037723
NM_177438.3(DICER1):c.5113G>A (p.Glu1705Lys) rs1890101390
NM_177438.3(DICER1):c.5113G>C (p.Glu1705Gln) rs1890101390
NM_177438.3(DICER1):c.5114A>T (p.Glu1705Val) rs1890101135
NM_177438.3(DICER1):c.5115A>C (p.Glu1705Asp) rs1890100882
NM_177438.3(DICER1):c.5122_5128del (p.Gly1708fs) rs1890098380
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn) rs1595331264
NM_177438.3(DICER1):c.5125G>C (p.Asp1709His) rs1595331264
NM_177438.3(DICER1):c.5125G>T (p.Asp1709Tyr) rs1595331264
NM_177438.3(DICER1):c.5125_5126delinsTG (p.Asp1709Cys) rs1890099387
NM_177438.3(DICER1):c.5126A>G (p.Asp1709Gly) rs1555366979
NM_177438.3(DICER1):c.5126A>T (p.Asp1709Val) rs1555366979
NM_177438.3(DICER1):c.5127T>A (p.Asp1709Glu) rs1890098663
NM_177438.3(DICER1):c.5127T>G (p.Asp1709Glu) rs1890098663
NM_177438.3(DICER1):c.5137G>A (p.Asp1713Asn) rs1890097519
NM_177438.3(DICER1):c.5138A>C (p.Asp1713Ala) rs1595331224
NM_177438.3(DICER1):c.5138A>T (p.Asp1713Val) rs1595331224
NM_177438.3(DICER1):c.5163T>A (p.Tyr1721Ter) rs756700070
NM_177438.3(DICER1):c.5194dup (p.Leu1732fs) rs886037725
NM_177438.3(DICER1):c.5251_5255del (p.Lys1751fs) rs886037726
NM_177438.3(DICER1):c.5299del (p.His1767fs) rs886037727
NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs) rs878855274
NM_177438.3(DICER1):c.5333del (p.Glu1778fs) rs1890068894
NM_177438.3(DICER1):c.5347C>T (p.Gln1783Ter) rs1890067345
NM_177438.3(DICER1):c.5365-1G>A rs1595315343
NM_177438.3(DICER1):c.5394del (p.Glu1799fs) rs886037728
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5425G>C (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5425G>T (p.Gly1809Trp) rs1595314951
NM_177438.3(DICER1):c.5426G>A (p.Gly1809Glu) rs1889810279
NM_177438.3(DICER1):c.5427_5428delinsTT (p.Asp1810Tyr) rs1889809530
NM_177438.3(DICER1):c.5428G>A (p.Asp1810Asn) rs775912475
NM_177438.3(DICER1):c.5428G>C (p.Asp1810His) rs775912475
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr) rs775912475
NM_177438.3(DICER1):c.5429A>G (p.Asp1810Gly) rs1889808547
NM_177438.3(DICER1):c.5429A>T (p.Asp1810Val) rs1889808547
NM_177438.3(DICER1):c.5437G>A (p.Glu1813Lys) rs1889806807
NM_177438.3(DICER1):c.5437G>C (p.Glu1813Gln) rs1889806807
NM_177438.3(DICER1):c.5437_5438inv (p.Glu1813Ser)
NM_177438.3(DICER1):c.5438A>C (p.Glu1813Ala) rs1889806272
NM_177438.3(DICER1):c.5438A>G (p.Glu1813Gly) rs1889806272
NM_177438.3(DICER1):c.5438A>T (p.Glu1813Val) rs1889806272
NM_177438.3(DICER1):c.5439G>A (p.Glu1813=) rs1889805730
NM_177438.3(DICER1):c.5439G>C (p.Glu1813Asp) rs1889805730
NM_177438.3(DICER1):c.5439G>T (p.Glu1813Asp) rs1889805730
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.5460C>G (p.Tyr1820Ter) rs1889801913
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576
NM_177438.3(DICER1):c.5492G>A (p.Trp1831Ter) rs1889794873
NM_177438.3(DICER1):c.5504_5507del (p.Tyr1835fs) rs1566746106
NM_177438.3(DICER1):c.559C>T (p.Arg187Ter) rs763801533
NM_177438.3(DICER1):c.597T>A (p.Cys199Ter) rs1893775878
NM_177438.3(DICER1):c.629T>G (p.Leu210Ter) rs886037730
NM_177438.3(DICER1):c.734+2T>C rs1893759823
NM_177438.3(DICER1):c.745C>T (p.Gln249Ter) rs886037732
NM_177438.3(DICER1):c.745del (p.Gln249fs) rs1893496450
NM_177438.3(DICER1):c.84dup (p.Gly29fs) rs1894120957
NM_177438.3(DICER1):c.869C>G (p.Ser290Ter) rs1595447658
NM_177438.3(DICER1):c.876_879del (p.Arg293fs) rs1893478668
NM_177438.3(DICER1):c.878_881del (p.Arg293fs) rs886037733
NM_177438.3(DICER1):c.904-1G>A rs1566803555
NM_177438.3(DICER1):c.904-1G>C rs1566803555
NM_177438.3(DICER1):c.911C>A (p.Ser304Ter) rs1893253451
NM_177438.3(DICER1):c.912_919dup (p.Arg307fs) rs1893252120
NM_177438.3(DICER1):c.958A>T (p.Lys320Ter) rs1461043339
NM_177438.3(DICER1):c.96G>A (p.Trp32Ter) rs1894119538
NM_177438.3(DICER1):c.988C>T (p.Gln330Ter) rs1893239532

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