ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263

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