List of variants studied for Weill-Marchesani syndrome 3

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=)	rs862031	0.67247
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)	rs699374	0.35704
NM_000428.3(LTBP2):c.1987+21G>A	rs862025	0.31731
NM_000428.3(LTBP2):c.1864+22C>A	rs3742794	0.25792
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)	rs117800773	0.00149
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	rs137854861	0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu)	rs143282840	0.00032
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln)	rs79886273	0.00013
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)	rs745791013	0.00001
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr)	rs770862437
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser)	rs1555349144
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)	rs137854856
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1])	rs554570575
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])	rs554570575

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