ClinVar Miner

List of variants in gene MECP2 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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908

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