ClinVar Miner

List of variants in gene TGFB2 reported as likely pathogenic for Loeys-Dietz syndrome

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Total variants: 3
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HGVS dbSNP
NM_001135599.3(TGFB2):c.454dup (p.Arg152Lysfs) rs869025533
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.628C>T (p.Gln210Ter) rs730880221

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