ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome by Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2539+2T>G rs1597569159
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter) rs1597568968
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs) rs1597563280
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs) rs1597563234
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6496+1del rs1597525871
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6804del (p.Ile2269fs) rs1597520683
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter) rs368978109
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859

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