ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) rs2043018196

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