ClinVar Miner

List of variants in gene SCN5A studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1984G>T (p.Ala662Ser) rs371313714 0.00012
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp) rs192379242 0.00004
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_001099404.2(SCN5A):c.612-1G>C rs1553706324

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.