ClinVar Miner

List of variants reported as benign for Loeys-Dietz syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 4
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HGVS dbSNP
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780

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