List of variants reported as pathogenic for Exostoses, multiple, type 2 by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1079+1G>C	rs1369420640
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)	rs569199683
NM_207122.2(EXT2):c.728del (p.Pro243fs)	rs2134985434
NM_207122.2(EXT2):c.782_783del (p.Leu261fs)	rs1954374127

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