List of variants in gene 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)	rs121917923
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)	rs752775574
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His)	rs750209664
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)	rs1698003832
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val)	rs2105862847
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile)	rs2105827881
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)	rs121918785
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)	rs794726786
NM_001165963.4(SCN1A):c.266del (p.Thr89fs)	rs1064797266
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe)	rs1574183148
NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys)	rs1553541303
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro)	rs398123589
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu)	rs1574172286
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile)	rs796053089
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)	rs796053090
NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys)	rs1574282312
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter)	rs1574281711
NM_001165963.4(SCN1A):c.53_55del (p.Thr18del)
NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly)
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly)	rs1553550574
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro)	rs1553550552
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu)	rs1553549845
NM_001165963.4(SCN1A):c.779dup (p.Phe261fs)	rs1574265485
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro)	rs1559238432
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	rs779184118

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