List of variants studied for Loeys-Dietz syndrome 2 by OMIM

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003242.6(TGFBR2):c.95-2A>G	rs779131465	0.00001
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn)	rs104893812
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)	rs104893813
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp)	rs104893814
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)	rs104893817
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu)	rs104893818
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe)	rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)	rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)	rs104893816
NM_003242.6(TGFBR2):c.1397-2A>G	rs587776770
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.1524G>A (p.Gln508=)	rs121918715
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	rs104893815
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)	rs28934568

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