ClinVar Miner

List of variants reported for Intellectual disability, autosomal recessive 42 by Genetic Services Laboratory, University of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.927+1G>A rs750079325 0.00001

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