ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 13 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)	rs2540260284
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	rs863223345
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	rs879255652

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