ClinVar Miner

List of variants reported as uncertain significance for bulbospinal muscular atrophy by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) rs1029077401
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247

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