ClinVar Miner

List of variants in gene SCN1B reported by GeneDx

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Gene type:
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Total variants: 129
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HGVS dbSNP
NM_001037.5(SCN1B):c.*13G>A rs1555721564
NM_001037.5(SCN1B):c.*17C>T rs1057522560
NM_001037.5(SCN1B):c.*23A>G rs868601122
NM_001037.5(SCN1B):c.-1C>T rs1057518527
NM_001037.5(SCN1B):c.-226C>T
NM_001037.5(SCN1B):c.-26G>C rs1057520587
NM_001037.5(SCN1B):c.-27G>T rs758958222
NM_001037.5(SCN1B):c.-31G>A rs776361009
NM_001037.5(SCN1B):c.-40C>G rs587781150
NM_001037.5(SCN1B):c.-41C>G rs1330923826
NM_001037.5(SCN1B):c.-9C>A rs66671189
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) rs72552028
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847
NM_001037.5(SCN1B):c.141C>T (p.Ser47=)
NM_001037.5(SCN1B):c.192T>C (p.Thr64=) rs1057522819
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+10T>C rs1057523254
NM_001037.5(SCN1B):c.207+13C>T rs373809858
NM_001037.5(SCN1B):c.207+14G>A rs16969924
NM_001037.5(SCN1B):c.207+19C>A rs201872896
NM_001037.5(SCN1B):c.207+55G>A
NM_001037.5(SCN1B):c.207+7G>A rs374588869
NM_001037.5(SCN1B):c.208-136del
NM_001037.5(SCN1B):c.208-14C>T rs72550272
NM_001037.5(SCN1B):c.208-320T>C
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys) rs746782800
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu) rs786205832
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833
NM_001037.5(SCN1B):c.248A>T (p.Asp83Val) rs1057524601
NM_001037.5(SCN1B):c.249T>C (p.Asp83=) rs1234271758
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925
NM_001037.5(SCN1B):c.258C>T (p.Phe86=) rs751009774
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
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.348G>A (p.Ser116=) rs375050816
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr) rs761925369
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.366C>T (p.His122=) rs761207251
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) rs754215948
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter) rs181115510
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=) rs181115510
NM_001037.5(SCN1B):c.40+15G>A
NM_001037.5(SCN1B):c.40+15G>T rs72556351
NM_001037.5(SCN1B):c.40+6T>C rs587781151
NM_001037.5(SCN1B):c.40+9G>A
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys) rs372630267
NM_001037.5(SCN1B):c.41-14T>C rs778258172
NM_001037.5(SCN1B):c.41-239T>G
NM_001037.5(SCN1B):c.41-313T>A
NM_001037.5(SCN1B):c.41-3C>T rs1064796801
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.414C>T (p.Val138=) rs757116018
NM_001037.5(SCN1B):c.429C>T (p.His143=)
NM_001037.5(SCN1B):c.448+103C>T rs372041274
NM_001037.5(SCN1B):c.448+111C>T rs758654948
NM_001037.5(SCN1B):c.448+112G>A rs72558026
NM_001037.5(SCN1B):c.448+126G>T rs746419159
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+144A>G rs763402433
NM_001037.5(SCN1B):c.448+181T>C rs55742440
NM_001037.5(SCN1B):c.448+189C>A rs766373298
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001037.5(SCN1B):c.448+199G>A rs946927516
NM_001037.5(SCN1B):c.448+217C>T rs1085307597
NM_001037.5(SCN1B):c.448+225C>T rs369588692
NM_001037.5(SCN1B):c.448+230C>T rs769132369
NM_001037.5(SCN1B):c.448+278G>A rs1057521627
NM_001037.5(SCN1B):c.448+295G>T rs786205828
NM_001037.5(SCN1B):c.448+296C>A rs67701503
NM_001037.5(SCN1B):c.448+29C>T rs186759145
NM_001037.5(SCN1B):c.448+301G>A rs67486287
NM_001037.5(SCN1B):c.448+30G>A rs369058711
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001037.5(SCN1B):c.448+337G>A rs369032304
NM_001037.5(SCN1B):c.448+345C>T rs754815235
NM_001037.5(SCN1B):c.448+354G>A rs752552401
NM_001037.5(SCN1B):c.448+379G>T rs1555720853
NM_001037.5(SCN1B):c.448+45G>A rs762453360
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.448+610T>C
NM_001037.5(SCN1B):c.448+679A>C
NM_001037.5(SCN1B):c.448+7C>T rs748379474
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_001037.5(SCN1B):c.448+8G>A rs200222933
NM_001037.5(SCN1B):c.448+8G>C rs200222933
NM_001037.5(SCN1B):c.449-10G>A rs1049927697
NM_001037.5(SCN1B):c.449-1G>A rs786205835
NM_001037.5(SCN1B):c.449-9C>A rs786205829
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val) rs1131691415
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001037.5(SCN1B):c.465A>G (p.Ala155=)
NM_001037.5(SCN1B):c.471C>T (p.Ile157=) rs765269835
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.477delinsATGATGGATG (p.Glu160_Ile161insTer) rs1131691338
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val) rs748491132
NM_001037.5(SCN1B):c.522C>T (p.Leu174=) rs35478147
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=) rs775659068
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152
NM_001037.5(SCN1B):c.585G>A (p.Glu195=) rs753271148
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.590+16G>A rs201053958
NM_001037.5(SCN1B):c.590+1G>A rs112767703
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948
NM_001037.5(SCN1B):c.591-5C>T rs1555721514
NM_001037.5(SCN1B):c.594G>A (p.Ser198=) rs112564234
NM_001037.5(SCN1B):c.6-19C>G rs1442747292
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter) rs1555721523
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp) rs745580499
NM_001037.5(SCN1B):c.630C>A (p.Asn210Lys) rs786205836
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882
NM_001037.5(SCN1B):c.63C>T (p.Cys21=) rs200339565
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213
NM_001037.5(SCN1B):c.644del (p.Gln215fs) rs1555721533
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln) rs767384862
NM_001037.5(SCN1B):c.90C>T (p.Ala30=) rs753994622
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) rs67486287

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