ClinVar Miner

List of variants in gene FBN1 reported as pathogenic by Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg) rs1555399165
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4781del (p.Gly1594fs) rs1566904011
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) rs1566891701
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.974_983del (p.Gly325fs) rs1566919599

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