ClinVar Miner

List of variants reported as likely pathogenic for Severe myoclonic epilepsy in infancy by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8
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NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
NM_001165963.4(SCN1A):c.965-1G>A rs794726824

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