ClinVar Miner

List of variants in gene MECP2 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 12
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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.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) rs1057520135
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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