ClinVar Miner

List of variants reported as likely benign for bulbospinal muscular atrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*455C>T rs73252520 0.08857
NM_016955.4(SEPSECS):c.*2694A>G rs956925 0.07936
NM_016955.4(SEPSECS):c.*638G>C rs10004441 0.01839
NM_016955.4(SEPSECS):c.*2209A>G rs9998044 0.01837
NM_016955.4(SEPSECS):c.*1041T>C rs114420733 0.01027
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016955.4(SEPSECS):c.*3402A>G rs149506792 0.00300
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014

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