ClinVar Miner

List of variants reported as likely pathogenic by Department of Vascular Biology,Beijing Anzhen Hospital

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Total variants: 56
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HGVS dbSNP
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.4(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.4(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.4(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.4(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.4(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.4(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.4(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.4(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.4(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.4(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.5(FBN1):c.1147+1G>A
NM_000138.5(FBN1):c.1560_1566del (p.Gln520fs)
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter)
NM_000138.5(FBN1):c.2133C>A (p.Cys711Ter)
NM_000138.5(FBN1):c.2173_2192dup (p.Asp732_Ile733insMetAsnValHisTer)
NM_000138.5(FBN1):c.2201G>C (p.Cys734Ser)
NM_000138.5(FBN1):c.2293+1G>C
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
NM_000138.5(FBN1):c.2668T>G (p.Cys890Gly)
NM_000138.5(FBN1):c.2795dup (p.Phe933fs)
NM_000138.5(FBN1):c.4366T>C (p.Cys1456Arg)
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe)
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4905del (p.Gly1636fs)
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.5472C>A (p.Cys1824Ter)
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter)
NM_000138.5(FBN1):c.5735T>G (p.Phe1912Cys)
NM_000138.5(FBN1):c.6033T>G (p.Cys2011Trp)
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr)
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6953G>C (p.Cys2318Ser)
NM_000138.5(FBN1):c.7205-2A>G
NM_000138.5(FBN1):c.7247G>A (p.Gly2416Glu)
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr)
NM_000138.5(FBN1):c.7453+1G>A
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.984C>A (p.Cys328Ter)
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_003242.6(TGFBR2):c.1396+1G>T
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.95-2A>G rs779131465
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter) rs727502791
NM_005902.4(SMAD3):c.94G>T (p.Glu32Ter)
NM_053025.4(MYLK):c.3343dup (p.Leu1115fs)

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