ClinVar Miner

List of variants reported as likely pathogenic for obsolete DICER1 syndrome by Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.2407G>A (p.Gly803Arg) rs1891645525
NM_177438.3(DICER1):c.2414T>C (p.Leu805Pro) rs1891644496
NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter) rs1595380836
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe) rs387906934
NM_177438.3(DICER1):c.2535_2539delinsAATCAACTTCAAGCATT (p.Thr847delinsAsnPheLysHisSer) rs1891601794
NM_177438.3(DICER1):c.2642T>C (p.Leu881Pro) rs1595380007
NM_177438.3(DICER1):c.2966_2967del (p.Asp989fs) rs1891391668
NM_177438.3(DICER1):c.4031C>T (p.Ser1344Leu) rs1566766572
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5221_5232del (p.Asn1741_Ile1744del) rs1890082420
NM_177438.3(DICER1):c.5364+1187T>G rs1889954831
NM_177438.3(DICER1):c.5426_5442delinsCA (p.Gly1809_Ser1814delinsAla) rs1889805083
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr) rs1889802883
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.3(DICER1):c.735-1_741delinsA rs886037731

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