ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, autosomal recessive 13 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter)	rs373701249	0.00002
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)	rs2538961463
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)	rs786205595

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