ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4336+4A>C rs764099050 0.00002
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.4312A>G (p.Ser1438Gly) rs1309215883 0.00001
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro) rs2043386032
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser) rs1057517910
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.4282C>G (p.Arg1428Gly) rs1258352189
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)

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