ClinVar Miner

List of variants reported as pathogenic for Exostoses, multiple, type 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	rs772690312	0.00002
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)	rs1954414269

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