List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for familial hemiplegic migraine

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	rs121918633
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	rs139300715
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	rs794726752
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	rs121917975
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)	rs1689685377
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	rs121917976
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)	rs1689242255
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	rs794726739
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)	rs77216276

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.