List of variants in gene SCN1A reported 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
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1028+2T>C	rs1698170849
NM_001165963.4(SCN1A):c.1028+5G>C	rs1553548057
NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)	rs121917920
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	rs886039430
NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala)	rs1225530396
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter)	rs1271824691
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)	rs1697433995
NM_001165963.4(SCN1A):c.2177-10_2177-9insA	rs1553543440
NM_001165963.4(SCN1A):c.264+5G>A	rs794726762
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.602+3_602+6del	rs1698937795
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)	rs121917937
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)	rs1698574524
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)	rs1553548194

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