ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign for Plagiocephaly; Global developmental delay; Visual impairment; Cortical visual impairment; Generalized hypotonia; Hypsarrhythmia; Postnatal microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808

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