ClinVar Miner

List of variants in gene SCN8A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1511_1512del (p.Leu503_Ser504insTer) rs2138750473
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2525T>A (p.Val842Glu) rs1085307940
NM_001330260.2(SCN8A):c.2548C>T (p.Arg850Ter) rs1555225782
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_001330260.2(SCN8A):c.3914G>C (p.Arg1305Thr) rs61618583
NM_001330260.2(SCN8A):c.3922T>C (p.Ser1308Pro) rs2138892868
NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln) rs201255617
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4419+1A>G rs1064793722
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4438T>A (p.Phe1480Ile) rs796053218
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn) rs1938702028
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4949C>T (p.Ala1650Val) rs796053224
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
NM_001330260.2(SCN8A):c.5614C>G (p.Arg1872Gly) rs796053228
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr) rs1592380859
NM_001330260.2(SCN8A):c.718A>C (p.Ile240Leu) rs1064793923
NM_001330260.2(SCN8A):c.811C>T (p.Gln271Ter)

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