ClinVar Miner

List of variants in gene SEPSECS reported as likely pathogenic for bulbospinal muscular atrophy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) rs1025711998 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) rs761072755 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 0.00001
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) rs781277383
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter) rs1712612053

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