ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 13 by University of British Columbia, BC Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp) rs2540184376
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630

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