List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for Paramyotonia congenita of Von Eulenburg

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	rs377176361	0.00002
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	rs121908556	0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	rs121908551	0.00001
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	rs80338955
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	rs80338956
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys)	rs121908560
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)	rs121908550
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	rs121908545
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)	rs121908554
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	rs121908559
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	rs121908548

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.