ClinVar Miner

List of variants in gene SCN8A studied for Epileptic encephalopathy

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4460A>T (p.Lys1487Met)
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557

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