List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Eurofins NTD LLC (GA)

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	rs398123593
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)	rs794727337
NM_001165963.4(SCN1A):c.4284+2T>C	rs398123595
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer)	rs886043532
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	rs199727342
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)	rs121917921
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs)	rs398123599

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