ClinVar Miner

List of variants studied for bulbospinal muscular atrophy of adulthood by GeneReviews

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[36] (p.Gln68_Gln80dup)

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