List of variants in gene combination LOC102724058, SCN1A reported by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3612del (p.Trp1204fs)
NM_001165963.4(SCN1A):c.3880-2_3880-1del
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	rs1553525337
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
NM_001165963.4(SCN1A):c.4284+1G>A	rs1553524865
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5469_5470del (p.Met1823fs)
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)	rs1573945872

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