List of variants reported as pathogenic for Multiple congenital exostosis by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1285-1G>C	rs1811943967
NM_000127.3(EXT1):c.1633-1G>A	rs1823354043
NM_000127.3(EXT1):c.1773del (p.Tyr592fs)	rs1586990361
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs)	rs1586989189
NM_000127.3(EXT1):c.392dup (p.Tyr131Ter)	rs1817881221

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