ClinVar Miner

List of variants studied for Congenital cerebellar hypoplasia; Seizure; Oligohydramnios; Nystagmus; Hypoplasia of the corpus callosum; Delayed gross motor development 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_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	rs1057518963

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