ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Service de Génétique Moléculaire, Hôpital Robert Debré

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906

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