ClinVar Miner

List of variants reported as likely benign for Early Infantile Epileptic Encephalopathy, Autosomal Dominant

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.*3706del rs560775301 0.00338
NM_001040142.1(SCN2A):c.*2490G>A rs189308010 0.00146
NM_001330260.2(SCN8A):c.*2235_*2236del rs556349961 0.00093
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00001
NM_001032221.6(STXBP1):c.*812_*815del rs376502400
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001330260.2(SCN8A):c.*3914_*3917dup rs370929972
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953

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