ClinVar Miner

List of variants in gene combination AR, LOC109504725 reported as pathogenic for Kennedy disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del) rs3032358
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.271C>T (p.Gln91Ter)

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