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

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Total variants: 16

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HGVS	dbSNP
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs)
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	rs121918623
NM_001165963.4(SCN1A):c.264+5G>A	rs794726762
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	rs794726770
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)	rs794726754
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	rs1559101839
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)	rs121917909
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)	rs781746113
NM_006920.6(SCN1A):c.2556+3A>T	rs794726775

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