List of variants in gene combination LOC102724058, SCN1A 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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg)	rs752060724
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)	rs121917963
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)	rs1574060743
NM_001165963.4(SCN1A):c.3658T>C (p.Phe1220Leu)
NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs)	rs1553532582
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)	rs1553532470
NM_001165963.4(SCN1A):c.3769_3774del (p.Lys1257_Val1258del)	rs2105593011
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)	rs398123592
NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg)	rs1553529527
NM_001165963.4(SCN1A):c.4126T>A (p.Cys1376Ser)	rs2105509369
NM_001165963.4(SCN1A):c.4433T>A (p.Phe1478Tyr)	rs2105475961
NM_001165963.4(SCN1A):c.4582-11T>G
NM_001165963.4(SCN1A):c.4727T>C (p.Ile1576Thr)	rs2105448524
NM_001165963.4(SCN1A):c.4852+2T>A	rs1689669178
NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser)	rs1317010570
NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs)	rs1553520483
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr)	rs796053035
NM_001165963.4(SCN1A):c.5436G>C (p.Trp1812Cys)	rs863225037
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	rs1559101839
NM_001165963.4(SCN1A):c.5615del (p.Thr1872fs)	rs1553520001

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.