ClinVar Miner

List of variants studied for X-linked intellectual disability-psychosis-macroorchidism syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser) rs2065955562 0.00001
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly) rs2522058852
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907

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