List of variants in gene GLI3 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000168.6(GLI3):c.1462_1497+2dup	rs1789003501
NM_000168.6(GLI3):c.1497+1G>A	rs1399654830
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)	rs1562667078
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)	rs1554306094
NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs)
NM_000168.6(GLI3):c.45del (p.Val16fs)

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