ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign for Early infantile epileptic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
NM_006920.6(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3468C>T (p.Pro1156=) rs769635347
NM_006920.6(SCN1A):c.3540T>C (p.Cys1180=) rs750943685
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.3846+9C>T rs570092799
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.4128C>T (p.Ile1376=) rs761168283
NM_006920.6(SCN1A):c.4134C>T (p.Asp1378=) rs376118833
NM_006920.6(SCN1A):c.4176T>C (p.Asn1392=) rs1176622466
NM_006920.6(SCN1A):c.4360A>G (p.Ile1454Val) rs138231868
NM_006920.6(SCN1A):c.4524G>A (p.Pro1508=) rs368785509
NM_006920.6(SCN1A):c.4691G>A (p.Arg1564His) rs368834365
NM_006920.6(SCN1A):c.4755C>T (p.Arg1585=) rs762836573
NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile) rs121918808
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.5244A>C (p.Pro1748=) rs1044871344
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5601G>A (p.Glu1867=) rs748090629
NM_006920.6(SCN1A):c.5776C>G (p.Gln1926Glu) rs1358776988
NM_006920.6(SCN1A):c.5790G>A (p.Thr1930=) rs754371368

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.