List of variants studied for Developmental and epileptic encephalopathy 6B by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	rs796052991	0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro)	rs776055539	0.00001
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)	rs1573984593	0.00001
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser)	rs1343188948
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)	rs1064795355
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)	rs2468394870
NM_001165963.4(SCN1A):c.4712C>T (p.Thr1571Ile)
NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)	rs2468358829
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)	rs121917979
NM_001165963.4(SCN1A):c.773T>C (p.Leu258Pro)

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