List of variants reported as pathogenic for Loeys-Dietz syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	rs113605875	0.00001
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)	rs137854478
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	rs727504292
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)	rs1575158954
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	rs863223852
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	rs104893815
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val)	rs1554701911
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)	rs863223829
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391

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