ClinVar Miner

List of variants in gene SCN1B reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 19
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HGVS dbSNP
NM_001037.5(SCN1B):c.*76G>T rs367768639
NM_001037.5(SCN1B):c.-9C>A rs66671189
NM_001037.5(SCN1B):c.136C>T (p.Arg46Cys) rs371646049
NM_001037.5(SCN1B):c.168G>C (p.Glu56Asp) rs886043547
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.268G>A (p.Val90Met) rs778461222
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.40+15G>T rs72556351
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001037.5(SCN1B):c.508T>C (p.Leu170=) rs748491132
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.621C>T (p.Ser207=) rs1378669075
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582

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