List of variants in gene GLI2 reported as pathogenic for Holoprosencephaly 9

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)	rs114814747	0.00964
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)	rs144372453	0.00352
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)	rs387907277	0.00002
GLI2, 1-BP DEL, NT2274
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter)	rs121917707
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly)	rs121917708
NM_001374353.1(GLI2):c.2454del (p.Ser819fs)
NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs)	rs1057518689
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter)	rs1683184865
NM_001374353.1(GLI2):c.864_865del (p.His289fs)	rs398122882
NM_001374353.1(GLI2):c.891del (p.Gln297fs)	rs1057518696

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.