ClinVar Miner

List of variants in gene GLI3 reported as pathogenic for Greig cephalopolysyndactyly syndrome

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Total variants: 12
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GLI3, 4-BP DEL, 4542CCAC
NM_000168.6(GLI3):c.1018del (p.Ser340fs)
NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) rs121917715
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.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) rs772948115
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.750del (p.Tyr251fs) rs1554317931
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713

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