ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for Angelman syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome

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Total variants: 5
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HGVS dbSNP
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NM_001110792.1(MECP2):c.41_57dup (p.Arg20Glufs) rs1557150846
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs) rs267608426
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241

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