ClinVar Miner

List of variants in gene GLI3 reported by OMIM

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Gene type:
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Total variants: 22
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HGVS dbSNP
GLI3, 1-BP DEL, 1018A
GLI3, 1-BP DEL, 2372C
GLI3, 1-BP DEL, 3707G
GLI3, 1-BP INS, 3647C
GLI3, 4-BP DEL, 4542CCAC
GLI3, CODON 764, FS
GLI3, DEL
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
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.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs) rs116840754
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.868C>T (p.Arg290Ter) rs121917713

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