ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.