ClinVar Miner

List of variants in gene SCN1B reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
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.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830 0.00001
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.105del (p.Phe36fs) rs2514232999
NM_001037.5(SCN1B):c.166G>T (p.Glu56Ter)
NM_001037.5(SCN1B):c.178dup (p.Arg60fs) rs2514233130
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+1G>A rs2064222084
NM_001037.5(SCN1B):c.20del (p.Ala6_Leu7insTer)
NM_001037.5(SCN1B):c.219T>G (p.Tyr73Ter) rs2151746369
NM_001037.5(SCN1B):c.24_25insT (p.Val9fs)
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter) rs1555720728
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.304C>T (p.Gln102Ter) rs2151746426
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs) rs2514234475
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter) rs181115510
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile) rs2064208424
NM_001037.5(SCN1B):c.447del (p.Ala150fs) rs2514234786
NM_001037.5(SCN1B):c.448+10del rs2064230124
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter) rs2514240912
NM_001037.5(SCN1B):c.59dup (p.Cys21fs) rs1568348569
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs) rs2514232982

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