ClinVar Miner

List of variants in gene SCN1B reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys) rs774152936 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) rs931949929
NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp) rs1600364712
NM_001037.5(SCN1B):c.449-2A>G rs1600370558

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