ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal recessive 42 by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)	rs143038880	0.00001
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)	rs869025578

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