ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome

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Total variants: 23
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HGVS dbSNP
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_001135599.3(TGFB2):c.454dup (p.Arg152Lysfs) rs869025533
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter) rs730880221
NM_003242.5(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.5(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.5(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.5(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.5(TGFBR2):c.1524+1G>A rs727503475
NM_003242.5(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.5(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.5(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.5(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.3(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_005902.3(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.3(SMAD3):c.871G>A (p.Gly291Arg) rs730880215

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