ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome by Zhou Lab, Center of Laboratory Medicine, Fuwai Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000015.9:g.48703187_48748959del45773
NM_000138.4(FBN1):c.5225_5296del rs1566902526
NM_000138.4(FBN1):c.6038_6163del rs1566897376
NM_000138.4(FBN1):c.6497_6616del rs1566895223
NM_000138.4(FBN1):c.6740_6871del rs1566894226

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