ClinVar Miner

List of variants reported for Intellectual disability, X-linked 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.3482C>T (p.Ser1161Leu) rs2519682527
NM_001111125.3(IQSEC2):c.675del (p.Ser226fs)

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