ClinVar Miner

List of variants in gene combination FBN1, LOC126862124 reported as likely pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548

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