ClinVar Miner

List of variants in gene TSEN54 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 33
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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.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401 0.00044
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_207346.3(TSEN54):c.1063C>T (p.His355Tyr) rs727504183 0.00024
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.437C>A (p.Thr146Asn) rs201623351 0.00013
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) rs376308638 0.00007
NM_207346.3(TSEN54):c.468+8C>T rs117456384 0.00007
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln) rs886043563 0.00003
NM_207346.3(TSEN54):c.914A>G (p.Asn305Ser) rs776796485 0.00002
NM_207346.3(TSEN54):c.1000G>A (p.Ala334Thr) rs886042169 0.00001
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met) rs747473434 0.00001
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=) rs201415896 0.00001
NM_207346.3(TSEN54):c.195G>A (p.Leu65=) rs768783066 0.00001
NM_207346.3(TSEN54):c.932G>A (p.Arg311His) rs773833320 0.00001
NM_207346.3(TSEN54):c.949G>A (p.Ala317Thr) rs201125812 0.00001
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys) rs398124621
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.290_292del (p.Lys97_Phe98delinsIle) rs750645536
NM_207346.3(TSEN54):c.634AAG[1] (p.Lys213del) rs794727939
NM_207346.3(TSEN54):c.823G>C (p.Val275Leu) rs1040846492
NM_207346.3(TSEN54):c.949G>T (p.Ala317Ser) rs201125812

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