ClinVar Miner

List of variants in gene combination AR, LOC109504725 reported as uncertain significance 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 gnomAD frequency
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000044.6(AR):c.188A>T (p.Gln63Leu) rs62636527 0.00006
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) rs1206863775

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