ClinVar Miner

List of variants in gene TGFBR1 reported as pathogenic for Loeys-Dietz syndrome

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Total variants: 5
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HGVS dbSNP
NM_004612.2(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.2(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911

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