ClinVar Miner

List of variants in gene TSEN54 studied for not specified

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06523
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_207346.3(TSEN54):c.222-18C>T rs113255333 0.02242
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010 0.00193
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_207346.3(TSEN54):c.624-31A>G rs191600766 0.00080
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_207346.3(TSEN54):c.222-40C>G rs368933303 0.00071
NM_207346.3(TSEN54):c.468+47A>T rs201404842 0.00068
NM_207346.3(TSEN54):c.221+17C>T rs556041813 0.00054
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_207346.3(TSEN54):c.521+19C>T rs201826966 0.00019
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp) rs200540627 0.00013
NM_207346.3(TSEN54):c.1173G>C (p.Gln391His) rs577958629 0.00009
NM_207346.3(TSEN54):c.1314-20G>A rs377740590 0.00008
NM_207346.3(TSEN54):c.624-10C>T rs368876457 0.00008
NM_207346.3(TSEN54):c.758G>A (p.Gly253Asp) rs369801130 0.00006
NM_207346.3(TSEN54):c.881G>A (p.Arg294Gln) rs150805182 0.00006
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=) rs775864125 0.00001
NM_207346.3(TSEN54):c.1431-3C>A rs748131735 0.00001
NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro) rs1388222262 0.00001
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly) rs1555644694
NM_207346.3(TSEN54):c.1166_1167delinsCC (p.Gln389Pro) rs886043264
NM_207346.3(TSEN54):c.1443T>C (p.Pro481=) rs762414335
NM_207346.3(TSEN54):c.1532_1534del (p.Ser511del) rs1131691447
NM_207346.3(TSEN54):c.285+30GCCCTCCCT[2] rs58038334
NM_207346.3(TSEN54):c.285G>C (p.Ala95=)
NM_207346.3(TSEN54):c.370-9C>T rs797046056
NM_207346.3(TSEN54):c.536C>T (p.Pro179Leu) rs376310114
NM_207346.3(TSEN54):c.699C>T (p.Pro233=) rs1555644529

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