List of variants in gene SCN4A reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)	rs6504191	0.91477
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)	rs16947296	0.03818
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	rs80338952	0.01562
NM_000334.4(SCN4A):c.1453-4A>G	rs111818485	0.00209
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)	rs748863960	0.00016
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)	rs778661227	0.00003
NM_000334.4(SCN4A):c.1569C>T (p.Ser523=)	rs752731993
NM_000334.4(SCN4A):c.1845+7A>G	rs141021600
NM_000334.4(SCN4A):c.483-5C>G	rs191547933
NM_000334.4(SCN4A):c.612-17del	rs542836462

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.