ClinVar Miner

List of variants reported for Rett syndrome by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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