ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 11 by Laboratory of Medical Genetics, University of Torino

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1871dup (p.Asn624fs)	rs2467933997
NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro)	rs2468082494

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