ClinVar Miner

List of variants in gene FBN1 reported as likely pathogenic by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs) rs1555399482
NM_000138.5(FBN1):c.2714del (p.Gly905fs) rs1555399089
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly) rs1555398667
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.5(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.5(FBN1):c.5296+6T>C rs1555396629
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.5(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.5(FBN1):c.6927del (p.Asn2309fs) rs1555394633
NM_000138.5(FBN1):c.7205-2A>C rs1555394450
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter) rs1555393565
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002

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