ClinVar Miner

List of variants in gene SCN8A reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 9
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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.3490+20G>A rs303808 0.76481
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637

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