ClinVar Miner

List of variants reported for Allan-Herndon-Dudley syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.150G>T (p.Glu50Asp)
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501

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