ClinVar Miner

List of variants in gene TSEN2 studied for bulbospinal muscular atrophy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) rs201214741 0.00011
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met) rs772061041 0.00010
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_025265.4(TSEN2):c.608C>T (p.Thr203Ile) rs35557378 0.00003
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) rs797046051 0.00001
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) rs376815626 0.00001
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser) rs778603443 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_025265.4(TSEN2):c.1016T>G (p.Phe339Cys)
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
NM_025265.4(TSEN2):c.1087G>A (p.Gly363Arg)
NM_025265.4(TSEN2):c.1272T>C (p.Ile424=) rs111535594
NM_025265.4(TSEN2):c.1355G>T (p.Arg452Leu)
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del) rs797046052
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) rs730880294
NM_025265.4(TSEN2):c.703CAT[1] (p.His236del)
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) rs2054534882
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys) rs1553587071
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) rs886037739
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738

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