ClinVar Miner

List of variants in gene LOC130068854, MECP2 studied for X-linked intellectual disability-psychosis-macroorchidism syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566

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