ClinVar Miner

List of variants in gene TSEN54 studied for bulbospinal muscular atrophy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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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.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
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.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) rs376308638 0.00007
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu) rs184421010 0.00003
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser) rs758853965 0.00002
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro) rs2053450384
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) rs797046055
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419
NM_207346.3(TSEN54):c.167G>A (p.Arg56His) rs1281448557
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)
NM_207346.3(TSEN54):c.823del (p.Val275fs) rs797046057
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384
TSEN54:c.[277T>C;919G>T]

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