List of variants in gene SCN1A reported as pathogenic for developmental and epileptic encephalopathy 6B

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

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1134_1140del (p.Met379fs)
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	rs746413385
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	rs121917929
NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu)	rs886042528
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)	rs796053076
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	rs886039430
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1del	rs2105901693
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs)	rs886041961
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	rs1698593264
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)	rs1553549667

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