ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_171825.2(CAMK2A):c.65del rs1554123982

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