ClinVar Miner

List of variants in gene AR reported as benign for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204

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