ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000168.6(GLI3):c.*1296T>C rs77126593
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*2757C>T rs3823720
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.*428C>T rs2051935
NM_000168.6(GLI3):c.*741A>G rs114615136
NM_000168.6(GLI3):c.-42-11G>C rs80019165
NM_000168.6(GLI3):c.-94C>G rs112754065
NM_000168.6(GLI3):c.1356+11G>C rs846273
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850

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