List of variants studied for genetic generalized epilepsy by GenomeConnect - Invitae Patient Insights Network

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	rs201338643	0.00014
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)	rs199715588	0.00005
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	rs202152511	0.00004
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)	rs199824489	0.00002
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys)	rs1351632820	0.00001
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)	rs1413202256	0.00001
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs)	rs1684663586
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)	rs756845310
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly)	rs753287730
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)	rs571145188

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