ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 13 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01080
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650

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