ClinVar Miner

List of variants in gene SCN1B reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+40G>A rs199685662 0.00011
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.415G>A (p.Val139Ile) rs560827790 0.00006
NM_001037.5(SCN1B):c.448+144A>G rs763402433 0.00006
NM_001037.5(SCN1B):c.448+225C>T rs369588692 0.00006
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.448+333C>T rs946024438 0.00004
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp) rs745580499 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) rs754215948 0.00002
NM_001037.5(SCN1B):c.408C>T (p.Thr136=) rs200126026 0.00002
NM_001037.5(SCN1B):c.448+159C>T rs774036126 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882 0.00002
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys) rs757554677 0.00001
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys) rs746782800 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.379C>T (p.Leu127Phe) rs2064229215 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys) rs372630267 0.00001
NM_001037.5(SCN1B):c.448+103C>T rs372041274 0.00001
NM_001037.5(SCN1B):c.448+126G>T rs746419159 0.00001
NM_001037.5(SCN1B):c.448+127C>T rs770344365 0.00001
NM_001037.5(SCN1B):c.448+192C>T rs72558027 0.00001
NM_001037.5(SCN1B):c.448+199G>A rs946927516 0.00001
NM_001037.5(SCN1B):c.448+205del rs764848712 0.00001
NM_001037.5(SCN1B):c.448+310T>C rs1230072181 0.00001
NM_001037.5(SCN1B):c.448+354G>A rs752552401 0.00001
NM_001037.5(SCN1B):c.448+45G>A rs762453360 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001037.5(SCN1B):c.502G>C (p.Val168Leu) rs1436161923 0.00001
NM_001037.5(SCN1B):c.570G>T (p.Glu190Asp) rs1422403439 0.00001
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213 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.17C>T (p.Ala6Val)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.20T>G (p.Leu7Ter) rs2151745345
NM_001037.5(SCN1B):c.214C>G (p.Arg72Gly) rs746782800
NM_001037.5(SCN1B):c.215G>A (p.Arg72His) rs770751961
NM_001037.5(SCN1B):c.218A>G (p.Tyr73Cys)
NM_001037.5(SCN1B):c.22G>C (p.Val8Leu) rs786205832
NM_001037.5(SCN1B):c.240GGA[2] (p.Glu82del) rs2151746376
NM_001037.5(SCN1B):c.248A>T (p.Asp83Val) rs1057524601
NM_001037.5(SCN1B):c.256T>C (p.Phe86Leu) rs1600364421
NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) rs121434627
NM_001037.5(SCN1B):c.295A>T (p.Lys99Ter)
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.316A>G (p.Ile106Val)
NM_001037.5(SCN1B):c.343C>T (p.His115Tyr)
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr) rs761925369
NM_001037.5(SCN1B):c.374G>T (p.Arg125Leu) rs759839781
NM_001037.5(SCN1B):c.396C>G (p.Tyr132Ter) rs181115510
NM_001037.5(SCN1B):c.41-3C>T rs1064796801
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala) rs2151745962
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+201C>T rs2151746638
NM_001037.5(SCN1B):c.448+217C>T rs1085307597
NM_001037.5(SCN1B):c.448+231G>A rs1412614368
NM_001037.5(SCN1B):c.448+236C>G rs779470587
NM_001037.5(SCN1B):c.448+287_448+290del rs762523720
NM_001037.5(SCN1B):c.448+39C>T rs373443526
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.449C>T (p.Ala150Val) rs1131691415
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr) rs1432198305
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.477delinsATGATGGATG (p.Ser159_Glu160insTer) rs1131691338
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val) rs748491132
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
NM_001037.5(SCN1B):c.615dup (p.Glu206Ter) rs1555721523
NM_001037.5(SCN1B):c.630C>A (p.Asn210Lys) rs786205836
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
NM_001037.5(SCN1B):c.644del (p.Gln215fs) rs1555721533
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln) rs767384862
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met) rs2151745336

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