List of variants in gene combination GH-LCR, SCN4A reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	rs80338955
NM_000334.4(SCN4A):c.3774+1G>T	rs2144778785
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del)	rs752135284
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser)	rs761947899

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.