List of variants reported as likely pathogenic for developmental and epileptic encephalopathy, 13 by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)	rs879255699
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)	rs1592149771
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)	rs1064793263
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)	rs1555228931
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)	rs1555229496
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)	rs1555230928
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)	rs1555231012
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455

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