ClinVar Miner

List of variants reported as pathogenic for Loeys-Dietz syndrome by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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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.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer) rs1597652471
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp) rs1008275504
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp) rs1597569551
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter) rs1597569265
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg) rs1597567249
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser) rs1555398974
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser) rs1597563934
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter) rs1364210063
NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter) rs1597552583
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter) rs1597545199
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr) rs1597540854
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) rs1597593852
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe) rs1597537858
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser) rs112728248
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6751del (p.Cys2251fs) rs1597520781
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs) rs1597520619
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) rs1597506641
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter) rs1597591602
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391

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