ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 53 by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter)	rs782124562	0.00001
NM_001127178.3(PIGG):c.571del	rs1553880098

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