ClinVar Miner

List of variants reported for Rett syndrome by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240

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