ClinVar Miner

List of variants in gene SCN1B reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+181T>C rs55742440 0.42428
NM_001037.5(SCN1B):c.41-313T>A rs8100085 0.41634
NM_001037.5(SCN1B):c.448+610T>C rs67777826 0.28960
NM_001037.5(SCN1B):c.448+679A>C rs61377791 0.28334
NM_001037.5(SCN1B):c.40+15G>T rs72556351 0.19938
NM_001037.5(SCN1B):c.*86A>C rs2278996 0.14285
NM_001037.5(SCN1B):c.*42T>C rs2278995 0.14069
NM_001037.5(SCN1B):c.448+296C>A rs67701503 0.13979
NM_001037.5(SCN1B):c.208-94T>G rs58899423 0.08727
NM_001037.5(SCN1B):c.208-121T>A rs58803373 0.08726
NM_001037.5(SCN1B):c.*6-11C>G rs28365105 0.05977
NM_001037.5(SCN1B):c.449-229C>T rs7256501 0.03134
NM_001037.5(SCN1B):c.207+14G>A rs16969924 0.02860
NM_001037.5(SCN1B):c.41-239T>G rs73929262 0.02601
NM_001037.5(SCN1B):c.208-136del rs72550271 0.02367
NM_001037.5(SCN1B):c.591-150A>G rs61457558 0.02240
NM_001037.5(SCN1B):c.208-320T>C rs56158208 0.02189
NM_001037.5(SCN1B):c.449-25C>T rs72550246 0.01950
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_001037.5(SCN1B):c.207+263G>A rs138469772 0.00672
NM_001037.5(SCN1B):c.208-284C>T rs183517721 0.00665
NM_001037.5(SCN1B):c.448+559C>T rs192082982 0.00650
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_001037.5(SCN1B):c.208-159G>A rs143996359 0.00517
NM_001037.5(SCN1B):c.*401G>A rs72550268 0.00514
NM_001037.5(SCN1B):c.*5+31G>A rs28365108 0.00361
NM_001037.5(SCN1B):c.207+55G>A rs147990128 0.00262
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00163
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001037.5(SCN1B):c.207+34A>C rs369688072 0.00059
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001037.5(SCN1B):c.448+112G>A rs72558026 0.00049
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001037.5(SCN1B):c.590+16G>A rs201053958 0.00036
NM_001037.5(SCN1B):c.448+320C>T rs570257058 0.00033
NM_001037.5(SCN1B):c.448+444G>A rs375266320 0.00023
NM_001037.5(SCN1B):c.348G>A (p.Ser116=) rs375050816 0.00021
NM_001037.5(SCN1B):c.448+345C>T rs754815235 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001037.5(SCN1B):c.207+7G>A rs374588869 0.00016
NM_001037.5(SCN1B):c.471C>T (p.Ile157=) rs765269835 0.00014
NM_001037.5(SCN1B):c.-27G>C rs758958222 0.00013
NM_001037.5(SCN1B):c.448+40G>A rs199685662 0.00011
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001037.5(SCN1B):c.-40C>G rs587781150 0.00007
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.448+8G>C rs200222933 0.00006
NM_001037.5(SCN1B):c.448+111C>T rs758654948 0.00005
NM_001037.5(SCN1B):c.448+140G>A rs775648401 0.00005
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) rs72552028 0.00004
NM_001037.5(SCN1B):c.208-14C>T rs72550272 0.00004
NM_001037.5(SCN1B):c.222G>A (p.Glu74=) rs775682394 0.00004
NM_001037.5(SCN1B):c.258C>T (p.Phe86=) rs751009774 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.448+299A>G rs1027861663 0.00004
NM_001037.5(SCN1B):c.448+333C>T rs946024438 0.00004
NM_001037.5(SCN1B):c.448+48A>C rs757515975 0.00004
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.366C>T (p.His122=) rs761207251 0.00003
NM_001037.5(SCN1B):c.414C>T (p.Val138=) rs757116018 0.00003
NM_001037.5(SCN1B):c.448+30G>A rs369058711 0.00003
NM_001037.5(SCN1B):c.591-5C>T rs1555721514 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.90C>T (p.Ala30=) rs753994622 0.00003
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
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.546C>T (p.Tyr182=) rs775659068 0.00002
NM_001037.5(SCN1B):c.585G>A (p.Glu195=) rs753271148 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.63C>T (p.Cys21=) rs200339565 0.00002
NM_001037.5(SCN1B):c.-31G>A rs776361009 0.00001
NM_001037.5(SCN1B):c.-41C>G rs1330923826 0.00001
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.141C>T (p.Ser47=) rs769535020 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.249T>C (p.Asp83=) rs1234271758 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 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.396C>T (p.Tyr132=) rs181115510 0.00001
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.40+9G>A rs1455017466 0.00001
NM_001037.5(SCN1B):c.405C>G (p.Asn135Lys) rs372630267 0.00001
NM_001037.5(SCN1B):c.41-14T>C rs778258172 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+230C>T rs769132369 0.00001
NM_001037.5(SCN1B):c.448+295G>T rs786205828 0.00001
NM_001037.5(SCN1B):c.448+310T>C rs1230072181 0.00001
NM_001037.5(SCN1B):c.448+346G>A rs76302703 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+7C>T rs748379474 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.594G>A (p.Ser198=) rs112564234 0.00001
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213 0.00001
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NC_000019.10:g.35030440CGC[10] rs557140301
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.*527T>C rs41275828
NM_001037.5(SCN1B):c.*57del rs2151749193
NM_001037.5(SCN1B):c.-1C>T rs1057518527
NM_001037.5(SCN1B):c.-26G>C rs1057520587
NM_001037.5(SCN1B):c.-27G>T rs758958222
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)
NM_001037.5(SCN1B):c.192T>C (p.Thr64=) rs1057522819
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+19C>A rs201872896
NM_001037.5(SCN1B):c.207+19C>T rs201872896
NM_001037.5(SCN1B):c.208-189G>A rs56276191
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.40+15G>A rs72556351
NM_001037.5(SCN1B):c.40+6T>C rs587781151
NM_001037.5(SCN1B):c.41-3C>T rs1064796801
NM_001037.5(SCN1B):c.41T>C (p.Val14Ala) rs2151745962
NM_001037.5(SCN1B):c.429C>T (p.His143=) rs1600364945
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+167C>G rs529053826
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+278G>A rs1057521627
NM_001037.5(SCN1B):c.448+287_448+290del rs762523720
NM_001037.5(SCN1B):c.448+301G>A rs67486287
NM_001037.5(SCN1B):c.448+337G>A rs369032304
NM_001037.5(SCN1B):c.448+379G>T rs1555720853
NM_001037.5(SCN1B):c.448+39C>T rs373443526
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.448+8G>A 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.461T>C (p.Met154Thr) rs1432198305
NM_001037.5(SCN1B):c.465A>G (p.Ala155=) rs1196314335
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.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.590+1G>A rs112767703
NM_001037.5(SCN1B):c.590+97C>T rs72550245
NM_001037.5(SCN1B):c.590C>A (p.Ala197Asp)
NM_001037.5(SCN1B):c.591-22A>T rs200116490
NM_001037.5(SCN1B):c.6-19C>G rs1442747292
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
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) rs67486287

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