ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for Cardiovascular phenotype

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000138.4(FBN1):c.2127_2130delACTCins11 (p.?)
NM_000138.4(FBN1):c.5067_5073delTATGAGA rs886038823
NM_000138.5(FBN1):c.1211dup (p.Pro405fs) rs112289537
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter) rs886038963
NM_000138.5(FBN1):c.2227del (p.Arg743fs) rs886038769
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2725del (p.Glu909fs) rs886038804
NM_000138.5(FBN1):c.2906del (p.Leu969fs) rs886039154
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.412A>T (p.Lys138Ter) rs886038937
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4721del (p.Cys1574fs) rs1555397148
NM_000138.5(FBN1):c.526C>T (p.Gln176Ter) rs886038766
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795

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