ClinVar Miner

List of variants in gene FBN1 reported as pathogenic for not specified

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys) rs1555400281
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.163G>T (p.Gly55Ter) rs1566944812
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1961-2A>G rs1555399779
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) rs1555398170
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328

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