ClinVar Miner

List of variants reported as uncertain significance for developmental delay with intractable seizures by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)	rs149278000	0.00020
NM_000834.5(GRIN2B):c.3005G>T (p.Gly1002Val)	rs773762599

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