ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia

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Total variants: 2
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NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser) rs61751035
Single allele

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