ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 11 by MGZ Medical Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile)	rs756738916	0.00001
NM_001040142.2(SCN2A):c.16C>A (p.Leu6Met)	rs2467837709
NM_001040142.2(SCN2A):c.2156A>G (p.Glu719Gly)	rs2467961516

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