List of variants reported as pathogenic for Loeys-Dietz syndrome 6 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)	rs2144290354
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)	rs746828424
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)	rs2144276501
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)	rs2144276285
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)	rs2144373131
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)	rs2144300734

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