List of variants reported as uncertain significance for Loeys-Dietz syndrome by Blueprint Genetics

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Total variants: 7

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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_000393.5(COL5A2):c.2795T>C (p.Leu932Pro)	rs730880067
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp)	rs869025536
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)	rs730880213
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	rs730880214

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