ClinVar Miner

List of variants studied for Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

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Total variants: 1
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NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283

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