List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by Ambry Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)	rs1057521746
NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	rs121917986
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)	rs121917974
NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His)
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)	rs2105447247
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del)
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)	rs796053035
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys)	rs886039460

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