ClinVar Miner

List of variants in gene SCN8A reported by Athena Diagnostics Inc

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001330260.2(SCN8A):c.*6A>T rs771414635 0.00001
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=) rs745966369 0.00001
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531 0.00001
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu) rs886044328
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953

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