List of variants in gene EXT2 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_207122.2(EXT2):c.484C>T (p.Gln162Ter)	rs2134968489
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)	rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)	rs886039358
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter)	rs1565199251
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)	rs121918280
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)

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