List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)	rs796053043	0.00001
NM_001165963.4(SCN1A):c.4064T>G (p.Leu1355Arg)	rs121918776
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)	rs121917913
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	rs1690574155
NM_001165963.4(SCN1A):c.4477-3T>A	rs1690013843
NM_001165963.4(SCN1A):c.4582-2A>G	rs2105449932
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)	rs1689271992
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)	rs2105430494

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