ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 2 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His) rs1699354101
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln) rs1559467328
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1603_1609delinsA (p.Ala535_Arg537delinsSer)

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