ClinVar Miner

List of variants in gene TSEN54 reported as benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 12
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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.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.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
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

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