ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic for See cases

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q24.3(chr2:166175328-166219034)x1
NM_001040142.2(SCN2A):c.3711del (p.Ile1238fs) rs2105365149
NM_001040142.2(SCN2A):c.644C>A (p.Ala215Glu) rs149024364

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