ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for Connective tissue disorder

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.2294-1G>T rs1064793914
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.5(FBN1):c.2670C>A (p.Cys890Ter) rs2141303490
NM_000138.5(FBN1):c.7429C>T (p.Gln2477Ter) rs2141226269

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