List of variants in gene SCN1A reported as pathogenic by Mendelics

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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: 39

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	rs398123588	0.00001
NC_000002.12:g.166051989del	rs1574266816
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)	rs794726798
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr)	rs2105874070
NM_001165963.4(SCN1A):c.1028+1G>A	rs863225030
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs)	rs2105868028
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs)	rs1553560831
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)	rs1553545567
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs)	rs2105844086
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter)	rs1684672231
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs)	rs2105841790
NM_001165963.4(SCN1A):c.207del (p.Pro70fs)	rs1574371902
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)	rs1574209023
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs)	rs1574208760
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)	rs786205214
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs)	rs2105828550
NM_001165963.4(SCN1A):c.2415+1G>A	rs886041292
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter)	rs1696880667
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	rs121918784
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)	rs121918785
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)	rs1057517862
NM_001165963.4(SCN1A):c.262_264+1del	rs1574371141
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs)	rs2105808458
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)	rs1574183148
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)	rs2105807206
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)	rs796052987
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr)	rs796052988
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)	rs121918750
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro)	rs2105797671
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)	rs148442069
NM_001165963.4(SCN1A):c.473+1G>A	rs794726840
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	rs121917935
NM_001165963.4(SCN1A):c.684del (p.Val229fs)	rs1574271602
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp)	rs121917909
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	rs1698593264
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer)	rs2105888823
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	rs779184118

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