ClinVar Miner

List of variants reported as likely pathogenic for Dandy-Walker syndrome; Global developmental delay; Hypoplasia of the corpus callosum; Cerebellar atrophy; Attention deficit hyperactivity disorder; Muscular hypotonia

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Total variants: 2
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NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) rs1114167296
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) rs1114167295

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