ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg) rs1553520084
NM_006920.6(SCN1A):c.3473T>C (p.Val1158Ala) rs1380673643
NM_006920.6(SCN1A):c.3969+6A>G rs1553529408
NM_006920.6(SCN1A):c.5084A>G (p.Asn1695Ser) rs1553520340

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.