List of variants in gene EXT2 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)	rs138722406	0.00010
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)	rs527624522	0.00002
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)	rs371996957	0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)	rs745738318	0.00001
NM_207122.1(EXT2):c.[260T>G;283C>T]
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)	rs1954415964
NM_207122.2(EXT2):c.1305+1G>A	rs864309637
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)	rs1590667793
NM_207122.2(EXT2):c.454_457del (p.Val154fs)	rs864309636
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	rs121918279
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)	rs121918281
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)	rs121918280
NM_207122.2(EXT2):c.744-2A>C	rs864309638
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter)	rs267606786

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