ClinVar Miner

List of variants in gene MECP2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) rs111302745 0.00004
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1204C>G (p.Pro402Ala) rs797045690
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) rs61754420

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