ClinVar Miner

List of variants in gene FBN1 reported as likely pathogenic by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

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Gene type:
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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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