ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_006920.6(SCN1A):c.3166G>A (p.Ala1056Thr) rs2298771
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.3771T>C (p.Leu1257=) rs143980709
NM_006920.6(SCN1A):c.4360A>G (p.Ile1454Val) rs138231868
NM_006920.6(SCN1A):c.4515G>A (p.Ser1505=) rs78041051
NM_006920.6(SCN1A):c.4912C>T (p.Leu1638=) rs148546224
NM_006920.6(SCN1A):c.5385G>A (p.Glu1795=) rs140237315
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053

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.