List of variants in gene GLI3 reported as pathogenic by GeneDx

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs)	rs1554315071
NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter)	rs1554314595
NM_000168.6(GLI3):c.1464_1489dup (p.Leu497fs)	rs1554314581
NM_000168.6(GLI3):c.1578del (p.Phe527fs)	rs1064793685
NM_000168.6(GLI3):c.1697del (p.His566fs)	rs886039667
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)	rs781422192
NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter)	rs1554306031
NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter)
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	rs121917714
NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter)	rs779898173
NM_000168.6(GLI3):c.3378del (p.Gly1127fs)
NM_000168.6(GLI3):c.3490G>T (p.Glu1164Ter)
NM_000168.6(GLI3):c.4010del (p.Ala1337fs)	rs1583728570
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000168.6(GLI3):c.4665dup (p.Asn1556fs)	rs1554304247

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