ClinVar Miner

List of variants in gene GLI3 reported as uncertain significance for Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome

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Total variants: 15
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HGVS dbSNP
NM_000168.5(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.5(GLI3):c.1184G>A (p.Gly395Glu)
NM_000168.5(GLI3):c.1242+6delA rs772496012
NM_000168.5(GLI3):c.1474G>A (p.Asp492Asn) rs886320788
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.272A>G (p.His91Arg)
NM_000168.5(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141
NM_000168.5(GLI3):c.3115G>A (p.Ala1039Thr) rs770430876
NM_000168.5(GLI3):c.3122A>G (p.Lys1041Arg)
NM_000168.5(GLI3):c.3509C>G (p.Ala1170Gly)
NM_000168.5(GLI3):c.3790G>A (p.Ala1264Thr)
NM_000168.5(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901
NM_000168.5(GLI3):c.4564G>T (p.Ala1522Ser) rs758379697
NM_000168.5(GLI3):c.659G>A (p.Arg220His)
NM_000168.5(GLI3):c.847A>T (p.Arg283Trp) rs746870989

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