ClinVar Miner

List of variants in gene TGFBR1 reported as pathogenic

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Total variants: 19
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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.683_685delAAG (p.Glu228del) rs863223829
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.797A>G (p.Asp266Gly) rs863223819
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.3(TGFBR1):c.1199A>G (p.Asp400Gly) rs121918711
NM_004612.3(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.3(TGFBR1):c.1255+1G>A rs1554702262
NM_004612.3(TGFBR1):c.1302_1303dupTG (p.Asp435Valfs) rs886038954
NM_004612.3(TGFBR1):c.1460G>C (p.Arg487Pro) rs113605875
NM_004612.3(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.3(TGFBR1):c.521G>T (p.Gly174Val) rs121918713
NM_004612.3(TGFBR1):c.599C>T (p.Thr200Ile) rs121918712
NM_004612.3(TGFBR1):c.633_635dup (p.Gly212_Lys213insGly) rs1554700603
NM_004612.3(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.3(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672
NM_004612.3(TGFBR1):c.953T>G (p.Met318Arg) rs121918710

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