ClinVar Miner

List of variants reported as pathogenic for Rett syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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