ClinVar Miner

List of variants in gene combination FBN1, LOC126862124 reported as likely benign 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
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.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.4336+7G>T rs760603409 0.00004
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.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
NM_000138.5(FBN1):c.4211-12_4211-9del rs1597552613
NM_000138.5(FBN1):c.4211-5T>C
NM_000138.5(FBN1):c.4211-8G>C rs764384543
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=) rs775256810
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=) rs112375043
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.4336+19A>G rs2043384546
NM_000138.5(FBN1):c.4336+4_4336+11dup
NM_000138.5(FBN1):c.4336+9T>A

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