List of variants in gene SCN5A reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)	rs199473220	0.00003
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)	rs199473266	0.00002
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)	rs1204915217	0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)	rs199473073	0.00001
NM_000335.5(SCN5A):c.1338+2T>A	rs786204839
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)	rs794728865
NM_000335.5(SCN5A):c.3509-1G>C	rs1553698563
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)	rs1559738598
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)	rs1553695764
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)	rs199473224
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter)	rs199473620
NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs)	rs2061022558
NM_000335.5(SCN5A):c.612-1G>A	rs1200777248

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.