ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His) rs750170064 0.00003
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met) rs764328953 0.00003
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val) rs1022856027 0.00001
NM_001330260.2(SCN8A):c.1516G>A (p.Gly506Arg) rs758393038 0.00001
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu) rs372096102 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001330260.2(SCN8A):c.1655G>C (p.Gly552Ala) rs957905474
NM_001330260.2(SCN8A):c.2110G>C (p.Val704Leu)
NM_001330260.2(SCN8A):c.2196C>G (p.Ile732Met)
NM_001330260.2(SCN8A):c.2531G>C (p.Arg844Pro)
NM_001330260.2(SCN8A):c.3096G>T (p.Lys1032Asn)
NM_001330260.2(SCN8A):c.3133A>G (p.Ile1045Val)
NM_001330260.2(SCN8A):c.3682A>G (p.Ile1228Val)
NM_001330260.2(SCN8A):c.4088T>C (p.Ile1363Thr) rs1229965891
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu) rs1020370285
NM_001330260.2(SCN8A):c.5229CTT[2] (p.Phe1746del) rs1565934130
NM_001330260.2(SCN8A):c.5284A>G (p.Ile1762Val)
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_001330260.2(SCN8A):c.5897G>A (p.Arg1966Lys)
NM_001330260.2(SCN8A):c.631G>T (p.Val211Leu)

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.