ClinVar Miner

List of variants in gene MECP2 reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.818del (p.Pro273fs)
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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