ClinVar Miner

List of variants reported as uncertain significance for bulbospinal muscular atrophy of adulthood by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722

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