ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with severe speech and ambulation defects

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016188.5(ACTL6B):c.1027G>T (p.Gly343Trp)
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)	rs1562851259

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