ClinVar Miner

List of variants in gene SCN1B reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00163
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001037.5(SCN1B):c.348G>A (p.Ser116=) rs375050816 0.00021
NM_001037.5(SCN1B):c.448+299A>G rs1027861663 0.00004
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147

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