ClinVar Miner

List of variants in gene SCN8A reported as likely benign for Early infantile epileptic encephalopathy

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Total variants: 45
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HGVS dbSNP
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser) rs1555217386
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala) rs1555217390
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.4(SCN8A):c.1339C>T (p.Gln447Ter) rs1060501012
NM_014191.4(SCN8A):c.1341+9T>C rs373377688
NM_014191.4(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.4(SCN8A):c.1611G>A (p.Gly537=) rs774383541
NM_014191.4(SCN8A):c.1662C>T (p.Pro554=) rs1555221470
NM_014191.4(SCN8A):c.1740G>A (p.Glu580=) rs776479136
NM_014191.4(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.4(SCN8A):c.1999-4A>T rs765240974
NM_014191.4(SCN8A):c.2109T>C (p.Val703=) rs369029348
NM_014191.4(SCN8A):c.2160G>A (p.Pro720=) rs967922373
NM_014191.4(SCN8A):c.2325T>C (p.His775=) rs1060504138
NM_014191.4(SCN8A):c.2463C>T (p.Asp821=) rs773865400
NM_014191.4(SCN8A):c.2592A>C (p.Leu864=) rs1555225792
NM_014191.4(SCN8A):c.2627G>T (p.Gly876Val) rs1060501010
NM_014191.4(SCN8A):c.2712T>C (p.Cys904=) rs1555225819
NM_014191.4(SCN8A):c.3183G>A (p.Lys1061=) rs749118803
NM_014191.4(SCN8A):c.324C>T (p.Ala108=) rs146485624
NM_014191.4(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676
NM_014191.4(SCN8A):c.3529G>A (p.Glu1177Lys) rs148742419
NM_014191.4(SCN8A):c.3582C>T (p.Ile1194=) rs756909923
NM_014191.4(SCN8A):c.3702T>C (p.Tyr1234=) rs1555226833
NM_014191.4(SCN8A):c.3738G>A (p.Glu1246=) rs376953145
NM_014191.4(SCN8A):c.3783C>G (p.Thr1261=) rs1060504140
NM_014191.4(SCN8A):c.3820-7T>C rs375785915
NM_014191.4(SCN8A):c.4311T>C (p.Asn1437=) rs1060504139
NM_014191.4(SCN8A):c.4557C>T (p.Val1519=) rs1555229490
NM_014191.4(SCN8A):c.4725G>A (p.Ala1575=) rs756326813
NM_014191.4(SCN8A):c.4742T>A (p.Phe1581Tyr) rs1555229539
NM_014191.4(SCN8A):c.4743C>T (p.Phe1581=) rs919899554
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.4770C>T (p.Phe1590=) rs368421269
NM_014191.4(SCN8A):c.4796-8C>T rs758151653
NM_014191.4(SCN8A):c.5046C>T (p.Ile1682=) rs376759643
NM_014191.4(SCN8A):c.5271C>T (p.Val1757=) rs752174650
NM_014191.4(SCN8A):c.5490C>T (p.Ile1830=) rs200546525
NM_014191.4(SCN8A):c.5580G>A (p.Gly1860=) rs201484402
NM_014191.4(SCN8A):c.5760A>G (p.Thr1920=) rs781617696
NM_014191.4(SCN8A):c.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.4(SCN8A):c.810G>A (p.Leu270=) rs377606066
NM_014191.4(SCN8A):c.903T>C (p.Asp301=) rs759557451
NM_014191.4(SCN8A):c.992+10T>A rs367746278

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