ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1456G>T (p.Gly486Trp) rs1597580915
NM_000138.5(FBN1):c.1571C>A (p.Thr524Lys) rs370575495
NM_000138.5(FBN1):c.284C>G (p.Ser95Trp) rs922684362
NM_000138.5(FBN1):c.3437T>G (p.Leu1146Arg) rs758018009
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6825C>G (p.Ile2275Met) rs1597520637

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