ClinVar Miner

List of variants reported as pathogenic for Hypertelorism; Sensorineural hearing loss disorder; Seizure; High palate; Brachycephaly; Hypoplasia of the corpus callosum; Absent speech; Anteverted nares; Wide mouth; Microcephaly; Strabismus; Decreased lacrimation; Generalized hypotonia; Abnormal nail morphology; Downturned corners of mouth; Inability to walk by childhood/adolescence; Severe global developmental delay

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.2771del (p.Pro924fs)	rs1553212868

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