List of variants studied for bone remodeling disease by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 11

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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
NM_000127.3(EXT1):c.568_570del (p.His190del)	rs1817877188
NM_000127.3(EXT1):c.624del (p.Phe209fs)	rs2130042609
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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