ClinVar Miner

List of variants in gene TGFBR1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.344-71G>A rs72739279 0.00340
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.*2100T>G rs532530728 0.00223
NM_004612.4(TGFBR1):c.*2685T>G rs145043837 0.00132
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.*4623G>C rs200806851 0.00092
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004612.4(TGFBR1):c.*1710G>A rs200197062 0.00005
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890 0.00003
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.*441C>T rs202012098 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) rs766347880 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) rs1057519144 0.00001
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) rs201497553 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.816T>C (p.Thr272=) rs1827646085 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004612.4(TGFBR1):c.*1687_*1688del
NM_004612.4(TGFBR1):c.*1697C>T
NM_004612.4(TGFBR1):c.*2096T>G
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106GTT[2] rs886063241
NM_004612.4(TGFBR1):c.1025A>G (p.Lys342Arg)
NM_004612.4(TGFBR1):c.1040G>T (p.Cys347Phe) rs113786548
NM_004612.4(TGFBR1):c.1278G>C (p.Leu426=)
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1398A>C (p.Val466=)
NM_004612.4(TGFBR1):c.1443T>C (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.163T>C (p.Phe55Leu) rs1588576233
NM_004612.4(TGFBR1):c.174C>G (p.Val58=)
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=) rs747332492
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) rs147146713
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) rs1554695407
NM_004612.4(TGFBR1):c.805+5_805+6del rs2118724763
NM_004612.4(TGFBR1):c.815C>G (p.Thr272Ser)
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.98-4C>A rs1554698879
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu)

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