ClinVar Miner

List of variants in gene SCN8A reported as benign for Cognitive impairment with or without cerebellar ataxia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
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.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637

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