ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
GLI3, 4-BP DEL, 4542CCAC
GLI3, DEL
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

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.