ClinVar Miner

List of variants in gene SCN1B reported as pathogenic

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Total variants: 16
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NM_001037.5(SCN1B):c.208-2A>C rs724159982
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925
NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) rs121434627
NM_001037.5(SCN1B):c.308A>T (p.Asp103Val) rs1057519457
NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) rs931949929
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_001037.5(SCN1B):c.448+89G>A rs267607029
NM_001037.5(SCN1B):c.449-1G>A rs786205835
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837

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