ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with severe speech and ambulation defects by Houlden Lab, UCL Institute of Neurology

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)

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