ClinVar Miner

List of variants in gene FBN1 reported as likely pathogenic by Centre for Genomic and Experimental Medicine, University of Edinburgh

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp) rs1555400378
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.5917+6T>C rs1555395742
NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr) rs1555401687
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.8504dup (p.Leu2836fs) rs1555393516

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