List of variants in gene GLI3 reported as pathogenic by OMIM

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)	rs121917716	0.00028
GLI3, CODON 764, FS
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000168.6(GLI3):c.1018del (p.Ser340fs)	rs1583500982
NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter)	rs121917715
NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs)	rs398122899
NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter)	rs121917711
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	rs121917712
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)	rs121917709
NM_000168.6(GLI3):c.2012del (p.Gly671fs)	rs116840743
NM_000168.6(GLI3):c.2023del (p.Glu675fs)	rs116840744
NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs)	rs116840754
NM_000168.6(GLI3):c.2372del (p.Pro791fs)	rs1583734240
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	rs121917714
NM_000168.6(GLI3):c.2800G>C (p.Ala934Pro)	rs28933372
NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter)	rs116840768
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs)	rs1583729562
NM_000168.6(GLI3):c.3707del (p.Gly1236fs)	rs1583729398
NM_000168.6(GLI3):c.4542_4545del (p.His1515fs)	rs2128704804
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)	rs121917713

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