List of variants in gene SCN1A reported as pathogenic by Eurofins NTD LLC (GA)

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	rs398123588	0.00001
NM_001165963.4(SCN1A):c.1029-1G>C	rs398123579
NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs)	rs398123580
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	rs121917929
NM_001165963.4(SCN1A):c.1177del (p.Arg393fs)	rs1553546981
NM_001165963.4(SCN1A):c.1377+1G>C	rs886043864
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)	rs398123585
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs)	rs786200989
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)	rs397514459
NM_001165963.4(SCN1A):c.2590-2A>G	rs727504140
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624
NM_001165963.4(SCN1A):c.830del (p.Cys277fs)	rs794727786

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