ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

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Total variants: 3
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HGVS dbSNP
NM_006920.6(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.6(SCN1A):c.5318T>A (p.Val1773Asp) rs1057518671
NM_006920.6(SCN1A):c.602+1G>A rs794726827

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