ClinVar Miner

List of variants reported as likely pathogenic for Motor delay; Micrognathia; Hearing impairment; Downslanted palpebral fissures; Microcephaly; Stenosis of the external auditory canal; Intellectual disability; Postnatal growth retardation

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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_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908

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