ClinVar Miner

List of variants in gene SCN1B reported as likely pathogenic for not provided

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 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.41-1G>T rs2151745961
NM_001037.5(SCN1B):c.590+1G>A rs112767703

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