ClinVar Miner

List of variants in gene SCN1B reported as uncertain significance for not specified

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001037.5(SCN1B):c.448+225C>T rs369588692 0.00006
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys) rs757554677 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.448+199G>A rs946927516 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NM_001037.5(SCN1B):c.*13G>A rs1555721564
NM_001037.5(SCN1B):c.-1C>T rs1057518527
NM_001037.5(SCN1B):c.448+129G>T rs1060499899
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+189C>T rs766373298
NM_001037.5(SCN1B):c.448+337G>T rs369032304
NM_001037.5(SCN1B):c.67del (p.Glu23fs) rs1060499898

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