ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance for Early infantile epileptic encephalopathy

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Total variants: 61
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HGVS dbSNP
NM_014191.3(SCN8A):c.1101G>A (p.Met367Ile) rs1555219147
NM_014191.3(SCN8A):c.1411G>A (p.Gly471Arg)
NM_014191.3(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451
NM_014191.3(SCN8A):c.1426A>C (p.Ser476Arg) rs1060501008
NM_014191.3(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.3(SCN8A):c.1519G>C (p.Glu507Gln) rs777851383
NM_014191.3(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_014191.3(SCN8A):c.1601A>G (p.Asn534Ser) rs760459642
NM_014191.3(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246
NM_014191.3(SCN8A):c.1817G>A (p.Arg606Gln) rs1359860813
NM_014191.3(SCN8A):c.1855_1863delGGCTACAGC (p.Gly619_Ser621del) rs758276968
NM_014191.3(SCN8A):c.1915C>T (p.Arg639Cys) rs368345284
NM_014191.3(SCN8A):c.1937A>G (p.Asn646Ser)
NM_014191.3(SCN8A):c.1954A>G (p.Ile652Val)
NM_014191.3(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_014191.3(SCN8A):c.1965delC (p.Gly656Alafs) rs1352024223
NM_014191.3(SCN8A):c.2056G>T (p.Asp686Tyr)
NM_014191.3(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_014191.3(SCN8A):c.2945C>T (p.Ala982Val)
NM_014191.3(SCN8A):c.2983A>G (p.Asn995Asp)
NM_014191.3(SCN8A):c.3008G>A (p.Arg1003His) rs752402332
NM_014191.3(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014191.3(SCN8A):c.3161A>C (p.His1054Pro) rs1060501009
NM_014191.3(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803
NM_014191.3(SCN8A):c.3230A>G (p.Tyr1077Cys)
NM_014191.3(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102
NM_014191.3(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_014191.3(SCN8A):c.3373-8G>A
NM_014191.3(SCN8A):c.3373-9C>T rs770747359
NM_014191.3(SCN8A):c.3433G>A (p.Glu1145Lys)
NM_014191.3(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_014191.3(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765
NM_014191.3(SCN8A):c.3769G>A (p.Val1257Ile) rs750829844
NM_014191.3(SCN8A):c.3921A>T (p.Leu1307Phe)
NM_014191.3(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_014191.3(SCN8A):c.417G>A (p.Met139Ile)
NM_014191.3(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014191.3(SCN8A):c.4237A>G (p.Lys1413Glu)
NM_014191.3(SCN8A):c.4397A>G (p.Asn1466Ser)
NM_014191.3(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.3(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
NM_014191.3(SCN8A):c.4687A>G (p.Ile1563Val)
NM_014191.3(SCN8A):c.4704G>T (p.Glu1568Asp) rs1207860967
NM_014191.3(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_014191.3(SCN8A):c.4800G>A (p.Met1600Ile)
NM_014191.3(SCN8A):c.5176G>T (p.Glu1726Ter)
NM_014191.3(SCN8A):c.5269G>A (p.Val1757Ile) rs1555231008
NM_014191.3(SCN8A):c.5479A>G (p.Ile1827Val)
NM_014191.3(SCN8A):c.5491G>A (p.Ala1831Thr)
NM_014191.3(SCN8A):c.5506A>G (p.Met1836Val) rs202187894
NM_014191.3(SCN8A):c.5607G>A (p.Met1869Ile)
NM_014191.3(SCN8A):c.5675G>A (p.Arg1892His)
NM_014191.3(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544
NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.3(SCN8A):c.5794C>T (p.Arg1932Trp) rs773966403
NM_014191.3(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742
NM_014191.3(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_014191.3(SCN8A):c.5924T>C (p.Val1975Ala)
NM_014191.3(SCN8A):c.707G>A (p.Gly236Asp) rs1555218603
NM_014191.3(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_014191.3(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657

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