List of variants reported as likely pathogenic for Loeys-Dietz syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	rs760079636	0.00001
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	rs1553303352
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)	rs1553630426
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)	rs2125434732
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter)	rs1962537574
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	rs387906850

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