ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter) rs1265340906

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