List of variants in gene DICER1 reported as pathogenic for pleuropulmonary blastoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.1630C>T (p.Arg544Ter)	rs137852979
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.2392dup (p.Thr798fs)	rs886037690
NM_177438.3(DICER1):c.2773G>T (p.Glu925Ter)	rs1891554648
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)	rs137852978
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)	rs1060503605
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	rs1131691197
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)	rs137852976
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)	rs1595314576
NM_177438.3(DICER1):c.904-1G>C	rs1566803555

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.