ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 4 by OMIM

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Total variants: 5
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NM_001135599.3(TGFB2):c.1042C>T (p.Arg348Cys) rs1553303352
NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His) rs387907278
NM_001135599.3(TGFB2):c.1106_1110del (p.Tyr369fs) rs398122884
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001135599.3(TGFB2):c.771C>A (p.Cys257Ter) rs398122885

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