List of variants in gene SCN1B reported as likely pathogenic

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)	rs766910280	0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)	rs16969925	0.00002
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)	rs1135401736	0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)	rs759839781	0.00001
NM_001037.5(SCN1B):c.448+88G>A	rs267607028	0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)	rs193922728	0.00001
NM_001037.5(SCN1B):c.108del (p.Phe36fs)	rs1064794589
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)	rs786205830
NM_001037.5(SCN1B):c.40+1_40+50del	rs2064208734
NM_001037.5(SCN1B):c.41-1G>T	rs2151745961
NM_001037.5(SCN1B):c.448+201C>T	rs2151746638
NM_001037.5(SCN1B):c.449-1G>T
NM_001037.5(SCN1B):c.449-2A>G	rs1600370558
NM_001037.5(SCN1B):c.590+1G>A	rs112767703
NM_001037.5(SCN1B):c.591-12_606del

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