List of variants reported as likely pathogenic by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_025074.7(FRAS1):c.8604+5G>A	rs200282443	0.00003
NM_000127.3(EXT1):c.568_570del (p.His190del)	rs1817877188
NM_000127.3(EXT1):c.624del (p.Phe209fs)	rs2130042609
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs)	rs1817986949
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)	rs587777446
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC	rs1721982733
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)	rs1869886793

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