ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Blueprint Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) rs730880164 0.00004
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_003238.6(TGFB2):c.370dup (p.Arg124fs) rs869025533
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp) rs869025536
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro) rs730880213
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg) rs730880215

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