List of variants reported as likely pathogenic for Severe myoclonic epilepsy in infancy by Mendelics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)	rs1574240716
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)	rs796053094
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)	rs1574217232
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)	rs1553543215
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)	rs794729207
NM_001165963.4(SCN1A):c.3429+1G>T	rs1574166948
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)	rs121917959
NM_001165963.4(SCN1A):c.3705+5G>A	rs1060502189
NM_001165963.4(SCN1A):c.384-12A>C	rs1574291210
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)	rs1574005699
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	rs1573991676
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)	rs794729200
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)	rs1573953706
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	rs121918778
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)	rs796053036
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)	rs1574271644
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)	rs1574264920
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)	rs1553549471

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