ClinVar Miner

List of variants reported for Intellectual disability, X-linked 50 by Institute for Human Genetics, University Hospital Essen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1121C>T (p.Ala374Val)
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813

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