List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.2294-2A>G
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)	rs1555398397
NM_000138.5(FBN1):c.458del (p.Gly153fs)
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)	rs1597540907
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)	rs1597520625
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)	rs1597517935
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)	rs397515847
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)	rs1057524757
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)	rs1597512576

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