List of variants reported as not provided for Severe myoclonic epilepsy in infancy by Channelopathy-Associated Epilepsy Research Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	rs121918805	0.00002
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile)	rs1205848223	0.00002
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	rs398123588	0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)	rs121918811	0.00001
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn)	rs121917940
NM_001165963.4(SCN1A):c.234G>C (p.Glu78Asp)
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys)	rs1057517959
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)	rs121918782
NM_001165963.4(SCN1A):c.2423C>G (p.Thr808Ser)
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	rs121918784
NM_001165963.4(SCN1A):c.2593C>G (p.Arg865Gly)
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	rs121918623
NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys)	rs121918787
NM_001165963.4(SCN1A):c.2726T>A (p.Met909Lys)
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln)	rs121918795
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)	rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)	rs1696619508
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)	rs121918796
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)	rs121918754
NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala)	rs121918756
NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile)	rs121918747
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	rs121918625
NM_001165963.4(SCN1A):c.3032A>T (p.Asn1011Ile)	rs121918759
NM_001165963.4(SCN1A):c.3610T>A (p.Trp1204Arg)
NM_001165963.4(SCN1A):c.3801G>C (p.Met1267Ile)
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)	rs794726841
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu)	rs121917954
NM_001165963.4(SCN1A):c.4243T>A (p.Phe1415Ile)
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>T (p.Gln1489His)
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4494C>G (p.Ile1498Met)
NM_001165963.4(SCN1A):c.4498A>G (p.Met1500Val)
NM_001165963.4(SCN1A):c.4759G>A (p.Glu1587Lys)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)	rs121918630
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro)	rs1689377026
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)	rs121918755
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)	rs121918622
NM_001165963.4(SCN1A):c.4946_4947delinsAA (p.Leu1649Gln)
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)	rs121917955
NM_001165963.4(SCN1A):c.4981T>C (p.Phe1661Leu)
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)	rs121918797
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys)	rs121918765
NM_001165963.4(SCN1A):c.5009T>G (p.Leu1670Trp)
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg)	rs121918792
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)	rs121918744
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)	rs121918744
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	rs121918629
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu)	rs121918798
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)	rs1689251604
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)	rs121918770
NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)
NM_001165963.4(SCN1A):c.5354T>G (p.Ile1785Ser)
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)	rs121918757
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	rs121918783
NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr)	rs121918815
NM_001165963.4(SCN1A):c.5768A>G (p.Gln1923Arg)
NM_001165963.4(SCN1A):c.5779A>G (p.Arg1927Gly)
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	rs121917937
NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)	rs773407463
NM_001165963.4(SCN1A):c.777C>G (p.Ser259Arg)
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val)	rs2105890052

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.