ClinVar Miner

List of variants reported as uncertain significance for Amelocerebrohypohidrotic syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.553C>T (p.Pro185Ser) rs775198813 0.00002
NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe)

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