ClinVar Miner

List of variants in gene TGFBR1 reported as pathogenic for Thoracic aortic aneurysm and aortic dissection

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Total variants: 8
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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_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.3(TGFBR1):c.1255+1G>A rs1554702262
NM_004612.3(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.3(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.3(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672

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