ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_014191.4(SCN8A):c.1099A>G (p.Met367Val) rs796053209
NM_014191.4(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
NM_014191.4(SCN8A):c.1342-3T>G rs1131691459
NM_014191.4(SCN8A):c.1445A>G (p.Lys482Arg) rs769520392
NM_014191.4(SCN8A):c.1759G>T (p.Glu587Ter) rs1131691327
NM_014191.4(SCN8A):c.2525T>A (p.Val842Glu) rs1085307940
NM_014191.4(SCN8A):c.2533T>C (p.Ser845Pro) rs1057518356
NM_014191.4(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_014191.4(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_014191.4(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_014191.4(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_014191.4(SCN8A):c.4411A>C (p.Lys1471Gln) rs1057521767
NM_014191.4(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_014191.4(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_014191.4(SCN8A):c.4873G>T (p.Gly1625Trp) rs879255708
NM_014191.4(SCN8A):c.4879A>C (p.Ile1627Leu) rs1131691414
NM_014191.4(SCN8A):c.4883T>G (p.Leu1628Trp) rs1555230928
NM_014191.4(SCN8A):c.4892T>A (p.Ile1631Asn) rs1085307999
NM_014191.4(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_014191.4(SCN8A):c.4936A>T (p.Met1646Leu) rs796053223
NM_014191.4(SCN8A):c.497C>T (p.Thr166Ile) rs1057520361
NM_014191.4(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_014191.4(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_014191.4(SCN8A):c.5614C>G (p.Arg1872Gly) rs796053228
NM_014191.4(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) rs1064794715
NM_014191.4(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_014191.4(SCN8A):c.769C>G (p.Leu257Val) rs1064794782
NM_014191.4(SCN8A):c.802A>C (p.Ile268Leu) rs1085308013

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.