ClinVar Miner

List of variants reported as likely pathogenic for Exostoses, multiple, type 2 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00003
NM_207122.2(EXT2):c.1778del (p.Val593fs)	rs2539780098

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