ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP
NM_030621.4(DICER1):c.1907+1G>A rs1131691217
NM_030621.4(DICER1):c.2642T>C (p.Leu881Pro) rs1595380007
NM_030621.4(DICER1):c.2651-2A>G rs1060503596
NM_030621.4(DICER1):c.307+1G>C rs1595465765
NM_030621.4(DICER1):c.4206+1G>T rs765059994
NM_030621.4(DICER1):c.5095+1G>A rs886037722
NM_030621.4(DICER1):c.735-1_741delinsA rs886037731
NM_177438.2(DICER1):c.1510-1G>A rs1566790572
NM_177438.2(DICER1):c.2457C>G (p.Tyr819Ter) rs1595380836
NM_177438.2(DICER1):c.2516C>T (p.Ser839Phe) rs387906934
NM_177438.2(DICER1):c.2987+1G>A rs1555370248
NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.2(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.2(DICER1):c.5365-1G>A rs1595315343
NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.2(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.2(DICER1):c.904-1G>C rs1566803555
NM_177438.3(DICER1):c.1377-2A>T
NM_177438.3(DICER1):c.1908-1G>A
NM_177438.3(DICER1):c.2041-1G>A
NM_177438.3(DICER1):c.2256+2T>C
NM_177438.3(DICER1):c.2407G>A (p.Gly803Arg)
NM_177438.3(DICER1):c.2414T>C (p.Leu805Pro)
NM_177438.3(DICER1):c.2535_2539delinsAATCAACTTCAAGCATT (p.Thr847delinsAsnPheLysHisSer)
NM_177438.3(DICER1):c.2805-21_2805-2del
NM_177438.3(DICER1):c.2966_2967del (p.Asp989fs)
NM_177438.3(DICER1):c.3085_3093+8del
NM_177438.3(DICER1):c.4031C>T (p.Ser1344Leu)
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs)
NM_177438.3(DICER1):c.439-1G>A
NM_177438.3(DICER1):c.5095+1G>T
NM_177438.3(DICER1):c.5096-2A>T
NM_177438.3(DICER1):c.5221_5232del (p.Asn1741_Ile1744del)
NM_177438.3(DICER1):c.5364+1187T>G
NM_177438.3(DICER1):c.5364+1G>C
NM_177438.3(DICER1):c.5426_5442delinsCA (p.Gly1809_Ser1814delinsAla)
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr)
NM_177438.3(DICER1):c.5527+3A>G rs1595313951
NM_177438.3(DICER1):c.574-1G>A

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