ClinVar Miner

List of variants in gene SCN3A reported as benign for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) rs1946892 0.51537
NM_006922.4(SCN3A):c.695-46A>G rs9333576 0.22613
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_006922.4(SCN3A):c.968-20G>T rs11887309 0.22426
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_006922.4(SCN3A):c.1381-34G>A rs58539679 0.21988
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser) rs768382383

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.