ClinVar Miner

List of variants in gene GLI3 reported as pathogenic by Invitae

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Total variants: 9
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HGVS dbSNP
NM_000168.5(GLI3):c.1451G>A (p.Trp484Ter)
NM_000168.5(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.5(GLI3):c.1878delA (p.Lys626Asnfs) rs1554306093
NM_000168.5(GLI3):c.3324C>A (p.Tyr1108Ter) rs116840766
NM_000168.5(GLI3):c.3904_3912delAATGAGTCAinsT (p.Asn1302Cysfs)
NM_000168.5(GLI3):c.4395delC (p.Ser1466Alafs) rs1554304380
NM_000168.5(GLI3):c.4431dupT (p.Glu1478Terfs) rs1057520063
NM_000168.5(GLI3):c.4498G>T (p.Glu1500Ter)
NM_000168.5(GLI3):c.868C>T (p.Arg290Ter) rs121917713

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