ClinVar Miner

List of variants in gene FBN1 studied for Isolated thoracic aortic aneurysm

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.3215A>T (p.Asp1072Val) rs2043526060 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.5(FBN1):c.1560_1566del (p.Gln520fs) rs2141327690
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter) rs531101773
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.2133C>A (p.Cys711Ter) rs2141308906
NM_000138.5(FBN1):c.2173_2192dup (p.Pro731_Asp732insMetAsnValHisTer) rs2141306536
NM_000138.5(FBN1):c.2201G>C (p.Cys734Ser) rs794728187
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2293+1G>C rs1060501092
NM_000138.5(FBN1):c.2303A>G (p.Glu768Gly) rs794728189
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg) rs2141305039
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2668T>G (p.Cys890Gly) rs1555399145
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2795dup (p.Phe933fs) rs2141300350
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.3086T>G (p.Ile1029Ser) rs1291255001
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.5(FBN1):c.3955G>A (p.Gly1319Ser) rs2141287290
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly) rs397515806
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.5(FBN1):c.4366T>C (p.Cys1456Arg) rs2141275799
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe) rs2141273076
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4905del (p.Gly1636fs) rs2141269618
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.5(FBN1):c.5472C>A (p.Cys1824Ter) rs2141256037
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter) rs2141252259
NM_000138.5(FBN1):c.5735T>G (p.Phe1912Cys) rs1555395830
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.5(FBN1):c.6033T>G (p.Cys2011Trp) rs769717588
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr) rs2141245523
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6825C>G (p.Ile2275Met) rs1597520637
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser) rs1555394626
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7205-2A>G rs1555394450
NM_000138.5(FBN1):c.7247G>A (p.Gly2416Glu) rs1555394442
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7453+1G>A rs397515851
NM_000138.5(FBN1):c.7456C>G (p.Leu2486Val) rs2141222601
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg) rs2042942573
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.984C>A (p.Cys328Ter) rs2141343233

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