List of variants in gene SCN3A reported as pathogenic for developmental and epileptic encephalopathy

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)	rs1057520753
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)	rs1553517274
NM_006922.4(SCN3A):c.585_586del (p.Phe195fs)	rs2105895111

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