ClinVar Miner

List of variants in gene FBN1 reported as pathogenic by Mendelics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.7249del (p.Glu2417fs) rs2141226991
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) rs2141211556

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