ClinVar Miner

List of variants in gene TGFBR1 studied for Cardiovascular phenotype

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Total variants: 52
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HGVS dbSNP
NM_001130916.2(TGFBR1):c.1202A>G (p.Asn401Ser) rs141259922
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_004612.2(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.2(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.2(TGFBR1):c.419C>T (p.Ser140Leu) rs1057524105
NM_004612.2(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.2(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.2(TGFBR1):c.929C>T (p.Ala310Val) rs202010361
NM_004612.2(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.3(TGFBR1):c.-2C>T rs200224304
NM_004612.3(TGFBR1):c.1009A>G (p.Lys337Glu) rs113911127
NM_004612.3(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.3(TGFBR1):c.1033G>A (p.Gly345Arg) rs1554701900
NM_004612.3(TGFBR1):c.1041C>G (p.Cys347Trp) rs886039015
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.3(TGFBR1):c.1136T>C (p.Met379Thr) rs886039004
NM_004612.3(TGFBR1):c.1152C>T (p.Leu384=) rs115324990
NM_004612.3(TGFBR1):c.120C>T (p.Leu40=) rs201267786
NM_004612.3(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.3(TGFBR1):c.1216T>C (p.Leu406=) rs200062984
NM_004612.3(TGFBR1):c.1219G>T (p.Val407Leu) rs146549837
NM_004612.3(TGFBR1):c.1301C>G (p.Ser434Cys) rs886039078
NM_004612.3(TGFBR1):c.1302_1303dupTG (p.Asp435Valfs) rs886038954
NM_004612.3(TGFBR1):c.1457T>G (p.Leu486Trp) rs886039176
NM_004612.3(TGFBR1):c.1497A>G (p.Glu499=) rs200055681
NM_004612.3(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.3(TGFBR1):c.230T>G (p.Leu77Ter) rs1554698926
NM_004612.3(TGFBR1):c.282T>C (p.Ser94=) rs886038856
NM_004612.3(TGFBR1):c.290C>A (p.Thr97Lys) rs1554698939
NM_004612.3(TGFBR1):c.32G>C (p.Arg11Pro) rs886038980
NM_004612.3(TGFBR1):c.343+3A>G rs374717754
NM_004612.3(TGFBR1):c.367C>T (p.Pro123Ser) rs1554699525
NM_004612.3(TGFBR1):c.424A>G (p.Met142Val) rs1029455360
NM_004612.3(TGFBR1):c.563G>T (p.Gly188Val) rs1554699638
NM_004612.3(TGFBR1):c.587T>G (p.Leu196Arg) rs886038998
NM_004612.3(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.3(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.3(TGFBR1):c.62C>T (p.Ala21Val) rs1554695407
NM_004612.3(TGFBR1):c.633_635dup (p.Gly212_Lys213insGly) rs1554700603
NM_004612.3(TGFBR1):c.705_707delCTC (p.Ser236del) rs863223830
NM_004612.3(TGFBR1):c.70_74delGCGGC (p.Ala24Glyfs) rs886038783
NM_004612.3(TGFBR1):c.73_78delGCGGCG (p.Ala25_Ala26del) rs11466445
NM_004612.3(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.3(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.3(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.3(TGFBR1):c.959T>C (p.Ile320Thr) rs1554701491
NM_004612.3(TGFBR1):c.98C>T (p.Ala33Val) rs1554698880
NM_004612.4(TGFBR1):c.-4G>A rs1007933061
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628

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