ClinVar Miner

List of variants in gene SCN8A reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 25
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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.1833G>T (p.Arg611=) rs35242963 0.01438
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01369
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.2371-6A>G rs187002252 0.00061
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453 0.00006
NM_001330260.2(SCN8A):c.3491-10C>T rs373221046 0.00004
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His) rs371644624
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.2132-8_2132-5del rs587780452
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455

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