ClinVar Miner

List of variants in gene combination FBN1, LOC126862124 reported as pathogenic for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(?_48410970)_(48497411_?)del
NC_000015.10:g.(?_48460226)_(48499058_?)del
NC_000015.10:g.(?_48470614)_(48499058_?)del
NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg) rs2043386188
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser) rs201273753
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter) rs2141277951
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4302del (p.Phe1435fs) rs2043385268
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser) rs886038940
NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp) rs2141277826
NM_000138.5(FBN1):c.4336+1G>A rs2141277821
NM_000138.5(FBN1):c.4336+1G>T rs2141277821
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221

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