ClinVar Miner

List of variants in gene FBN1, LOC126862124 studied for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.4336+7G>T rs760603409 0.00004
NM_000138.5(FBN1):c.4336+4A>C rs764099050 0.00002
NM_000138.5(FBN1):c.4211-18G>A rs532573637 0.00001
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=) rs759712586 0.00001
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser) rs768531262 0.00001
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=) rs1428390270 0.00001
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=) rs1187173937 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly) rs1309215883 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=) rs375157552 0.00001
NM_000138.5(FBN1):c.4336+10G>C rs1475499953 0.00001
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.4211-12_4211-9del rs1597552613
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4211-5T>C
NM_000138.5(FBN1):c.4211-8G>C rs764384543
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
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.4230G>A (p.Glu1410=)
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
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.4262T>C (p.Leu1421Pro) rs2043386032
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=) rs775256810
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser) rs201273753
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg) rs1597552464
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala) rs531751210
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter) rs2141277951
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly) rs1258352189
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.4293C>T (p.Cys1431=) rs112375043
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
NM_000138.5(FBN1):c.4302del (p.Phe1435fs) rs2043385268
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=) rs1243628683
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu) rs377338217
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
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+19A>G rs2043384546
NM_000138.5(FBN1):c.4336+1G>A rs2141277821
NM_000138.5(FBN1):c.4336+1G>T rs2141277821
NM_000138.5(FBN1):c.4336+4_4336+11dup
NM_000138.5(FBN1):c.4336+9T>A
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221

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