ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 1 by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val)	rs1554770243

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