List of variants in gene combination LOC102724058, SCN1A reported as 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.4969C>T (p.Arg1657Cys)	rs121918811	0.00001
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs)	rs886039529
NM_001165963.4(SCN1A):c.3526G>T (p.Glu1176Ter)	rs1553534041
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)	rs121917945
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)	rs2105476084
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)	rs1573953030
NM_001165963.4(SCN1A):c.5148C>A (p.Cys1716Ter)	rs773545020
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)	rs1553520103
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)	rs760906812

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