ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Neurogenetics Laboratory - MEYER, AOU Meyer

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Total variants: 6
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NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) rs1057519534
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_001165963.4(SCN1A):c.603-2A>G rs1057519531
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530

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