List of variants in gene DICER1 reported as pathogenic by GeneDx

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: 18

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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.1234del (p.Trp412fs)	rs1555374679
NM_177438.3(DICER1):c.1724dup (p.Asp575fs)	rs2140123124
NM_177438.3(DICER1):c.1880_1883del (p.Ile627fs)	rs886037680
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)	rs878855246
NM_177438.3(DICER1):c.2233C>T (p.Arg745Ter)	rs1060503584
NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter)	rs886037689
NM_177438.3(DICER1):c.2650+1G>T	rs886037691
NM_177438.3(DICER1):c.2988-2A>G	rs1595372950
NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter)	rs1131691189
NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter)	rs1131691225
NM_177438.3(DICER1):c.3540C>A (p.Tyr1180Ter)	rs886037704
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter)	rs878855262
NM_177438.3(DICER1):c.4405_4406del (p.Leu1469fs)	rs1064795904
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	rs875989784
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	rs1131691197
NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter)	rs875989780
NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs)	rs878855274

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