ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001352027.3(PHF21A):c.1724C>A (p.Ser575Ter)	rs2495614521
NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)	rs2497897075

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