ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 13
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HGVS dbSNP
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.344-74del rs193922675
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636

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