ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.*9G>T rs144008995
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) rs1332969540
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) rs1557136251

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