List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Athena Diagnostics Inc

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)	rs863225032
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)	rs368609628
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)	rs863225033
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)	rs863225034
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	rs796053004
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)	rs863225035
NM_001165963.4(SCN1A):c.4338+1G>T	rs1553523138
NM_001165963.4(SCN1A):c.4476+1A>G	rs796053014
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)	rs1085307730
NM_001165963.4(SCN1A):c.4477-2A>G	rs863225036
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	rs139300715
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	rs794726752
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)	rs575368466
NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer)
NM_001165963.4(SCN1A):c.4853-1G>C	rs1553520530
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	rs199727342
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	rs121918791
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)	rs863225037
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)	rs779614747

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