ClinVar Miner

List of variants reported as likely benign for Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	rs1057518888

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