List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)	rs1689685377
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	rs121917976
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)	rs1689242255

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