ClinVar Miner

List of variants in gene combination DOK1, LOXL3 studied for not provided

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_032603.5(LOXL3):c.79C>G (p.Pro27Ala) rs146972503 0.00235
NM_032603.5(LOXL3):c.87T>G (p.Pro29=) rs141478697 0.00212
NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu) rs150977936 0.00165
NM_032603.5(LOXL3):c.405G>A (p.Thr135=) rs141075927 0.00139
NM_032603.5(LOXL3):c.684C>T (p.Ala228=) rs367759468 0.00045
NM_032603.5(LOXL3):c.544C>T (p.Leu182=) rs537721394 0.00038
NM_032603.5(LOXL3):c.75G>A (p.Gly25=) rs148653697 0.00015
NM_032603.5(LOXL3):c.579T>C (p.Leu193=) rs373048810 0.00014
NM_032603.5(LOXL3):c.692+19C>A rs200302974 0.00014
NM_032603.5(LOXL3):c.66G>A (p.Ser22=) rs528551764 0.00013
NM_032603.5(LOXL3):c.547C>A (p.Pro183Thr) rs1024273215 0.00010
NM_032603.5(LOXL3):c.443G>A (p.Arg148His) rs575389607 0.00009
NM_032603.5(LOXL3):c.117C>T (p.Ser39=) rs555634716 0.00008
NM_032603.5(LOXL3):c.57G>A (p.Leu19=) rs370650948 0.00008
NM_032603.5(LOXL3):c.478-16G>T rs368052222 0.00007
NM_032603.5(LOXL3):c.691A>T (p.Arg231Trp) rs373973191 0.00007
NM_032603.5(LOXL3):c.81G>A (p.Pro27=) rs376297326 0.00007
NM_032603.5(LOXL3):c.5G>A (p.Arg2Gln) rs748632204 0.00006
NM_032603.5(LOXL3):c.4C>A (p.Arg2=) rs370437226 0.00005
NM_032603.5(LOXL3):c.313+18C>T rs778123762 0.00004
NM_032603.5(LOXL3):c.394A>G (p.Ser132Gly) rs376265928 0.00004
NM_032603.5(LOXL3):c.40C>A (p.Leu14Met) rs374069539 0.00004
NM_032603.5(LOXL3):c.477+17C>T rs201826141 0.00004
NM_032603.5(LOXL3):c.501G>C (p.Glu167Asp) rs934234883 0.00004
NM_032603.5(LOXL3):c.128G>A (p.Arg43Gln) rs765433257 0.00003
NM_032603.5(LOXL3):c.129G>A (p.Arg43=) rs191994982 0.00003
NM_032603.5(LOXL3):c.160T>C (p.Tyr54His) rs773322576 0.00003
NM_032603.5(LOXL3):c.251G>A (p.Arg84Gln) rs372708796 0.00003
NM_032603.5(LOXL3):c.278G>C (p.Gly93Ala) rs762632876 0.00003
NM_032603.5(LOXL3):c.459G>A (p.Ser153=) rs149683601 0.00003
NM_032603.5(LOXL3):c.467A>G (p.Asn156Ser) rs756276203 0.00003
NM_032603.5(LOXL3):c.127C>T (p.Arg43Trp) rs755080038 0.00002
NM_032603.5(LOXL3):c.162C>T (p.Tyr54=) rs780347605 0.00002
NM_032603.5(LOXL3):c.169C>T (p.Arg57Cys) rs373368024 0.00002
NM_032603.5(LOXL3):c.172G>A (p.Val58Met) rs371316114 0.00002
NM_032603.5(LOXL3):c.314-3C>T rs143795234 0.00002
NM_032603.5(LOXL3):c.39G>A (p.Gly13=) rs762115902 0.00002
NM_032603.5(LOXL3):c.409G>A (p.Asp137Asn) rs759306602 0.00002
NM_032603.5(LOXL3):c.677A>G (p.Asn226Ser) rs143485735 0.00002
NM_032603.5(LOXL3):c.126T>C (p.Leu42=) rs1416439358 0.00001
NM_032603.5(LOXL3):c.134G>A (p.Arg45Gln) rs202057346 0.00001
NM_032603.5(LOXL3):c.154A>G (p.Lys52Glu) rs1433412630 0.00001
NM_032603.5(LOXL3):c.161A>G (p.Tyr54Cys) rs1213377664 0.00001
NM_032603.5(LOXL3):c.170G>A (p.Arg57His) rs779522901 0.00001
NM_032603.5(LOXL3):c.171C>T (p.Arg57=) rs1677076909 0.00001
NM_032603.5(LOXL3):c.211G>A (p.Asp71Asn) rs143357774 0.00001
NM_032603.5(LOXL3):c.219C>G (p.Asp73Glu) rs1677073530 0.00001
NM_032603.5(LOXL3):c.258G>A (p.Leu86=) rs539428599 0.00001
NM_032603.5(LOXL3):c.292G>A (p.Ala98Thr) rs775248732 0.00001
NM_032603.5(LOXL3):c.300T>C (p.Tyr100=) rs1313880581 0.00001
NM_032603.5(LOXL3):c.308G>A (p.Gly103Glu) rs1677068611 0.00001
NM_032603.5(LOXL3):c.313+15A>C rs1163926242 0.00001
NM_032603.5(LOXL3):c.351C>T (p.Thr117=) rs772444680 0.00001
NM_032603.5(LOXL3):c.375C>T (p.Ala125=) rs370946124 0.00001
NM_032603.5(LOXL3):c.379C>T (p.Arg127Trp) rs1219893637 0.00001
NM_032603.5(LOXL3):c.477+11C>T rs541494283 0.00001
NM_032603.5(LOXL3):c.523G>A (p.Val175Ile) rs776024001 0.00001
NM_032603.5(LOXL3):c.536G>T (p.Arg179Ile) rs1470620333 0.00001
NM_032603.5(LOXL3):c.549C>T (p.Pro183=) rs1344921393 0.00001
NM_032603.5(LOXL3):c.555G>A (p.Thr185=) rs1040647718 0.00001
NM_032603.5(LOXL3):c.586G>A (p.Gly196Ser) rs201296491 0.00001
NM_032603.5(LOXL3):c.591_596del (p.Trp197_Gln199delinsTer) rs2530017229 0.00001
NM_032603.5(LOXL3):c.680C>T (p.Ala227Val) rs760921521 0.00001
NM_032603.5(LOXL3):c.111C>A (p.Ala37=) rs773925764
NM_032603.5(LOXL3):c.111C>T (p.Ala37=) rs773925764
NM_032603.5(LOXL3):c.116G>T (p.Ser39Ile) rs902932212
NM_032603.5(LOXL3):c.123G>A (p.Gly41=) rs763243931
NM_032603.5(LOXL3):c.123G>T (p.Gly41=)
NM_032603.5(LOXL3):c.12C>T (p.Val4=) rs2530042536
NM_032603.5(LOXL3):c.133C>A (p.Arg45=) rs1429584079
NM_032603.5(LOXL3):c.142_145dup (p.Phe49fs) rs2530040301
NM_032603.5(LOXL3):c.153_183del (p.Arg51fs) rs2530039412
NM_032603.5(LOXL3):c.158C>T (p.Pro53Leu) rs1241356218
NM_032603.5(LOXL3):c.159del (p.Tyr54fs)
NM_032603.5(LOXL3):c.180A>T (p.Ile60=) rs2104453063
NM_032603.5(LOXL3):c.201C>T (p.Gly67=) rs2530039211
NM_032603.5(LOXL3):c.210C>T (p.Cys70=)
NM_032603.5(LOXL3):c.216T>C (p.Asp72=) rs368626902
NM_032603.5(LOXL3):c.266C>T (p.Thr89Ile) rs2104452703
NM_032603.5(LOXL3):c.266_267del (p.Thr89fs) rs2104452689
NM_032603.5(LOXL3):c.310A>G (p.Thr104Ala) rs2104452549
NM_032603.5(LOXL3):c.313+10G>A
NM_032603.5(LOXL3):c.313+3G>T rs769428869
NM_032603.5(LOXL3):c.314-20C>G rs200178697
NM_032603.5(LOXL3):c.314-20C>T rs200178697
NM_032603.5(LOXL3):c.314-8T>G
NM_032603.5(LOXL3):c.314-9C>T
NM_032603.5(LOXL3):c.316C>T (p.Arg106Cys) rs770526303
NM_032603.5(LOXL3):c.317G>A (p.Arg106His) rs73949682
NM_032603.5(LOXL3):c.317G>T (p.Arg106Leu) rs73949682
NM_032603.5(LOXL3):c.339C>A (p.Ser113Arg) rs2104445711
NM_032603.5(LOXL3):c.340T>G (p.Cys114Gly) rs2530026356
NM_032603.5(LOXL3):c.348G>A (p.Gly116=)
NM_032603.5(LOXL3):c.373G>A (p.Ala125Thr) rs1676920519
NM_032603.5(LOXL3):c.381G>A (p.Arg127=) rs756254806
NM_032603.5(LOXL3):c.395G>A (p.Ser132Asn) rs1676918462
NM_032603.5(LOXL3):c.39dup (p.Leu14fs) rs35904632
NM_032603.5(LOXL3):c.404C>T (p.Thr135Met) rs762811068
NM_032603.5(LOXL3):c.405G>C (p.Thr135=) rs141075927
NM_032603.5(LOXL3):c.408C>T (p.His136=)
NM_032603.5(LOXL3):c.409G>C (p.Asp137His) rs759306602
NM_032603.5(LOXL3):c.40C>T (p.Leu14=) rs374069539
NM_032603.5(LOXL3):c.442C>A (p.Arg148Ser) rs373321712
NM_032603.5(LOXL3):c.442C>T (p.Arg148Cys) rs373321712
NM_032603.5(LOXL3):c.477+10T>C
NM_032603.5(LOXL3):c.477+14A>G rs757317593
NM_032603.5(LOXL3):c.477+18A>T rs2530024496
NM_032603.5(LOXL3):c.481G>C (p.Glu161Gln) rs755891381
NM_032603.5(LOXL3):c.483G>A (p.Glu161=) rs1438494537
NM_032603.5(LOXL3):c.492G>T (p.Leu164=)
NM_032603.5(LOXL3):c.507G>C (p.Val169=) rs761471525
NM_032603.5(LOXL3):c.508C>T (p.Arg170Ter) rs2530018641
NM_032603.5(LOXL3):c.516A>G (p.Arg172=)
NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu) rs199751441
NM_032603.5(LOXL3):c.548C>T (p.Pro183Leu) rs2530018086
NM_032603.5(LOXL3):c.559G>A (p.Gly187Arg) rs2104441544
NM_032603.5(LOXL3):c.561G>A (p.Gly187=) rs993256883
NM_032603.5(LOXL3):c.561G>T (p.Gly187=) rs993256883
NM_032603.5(LOXL3):c.563T>C (p.Leu188Pro) rs749209218
NM_032603.5(LOXL3):c.588C>T (p.Gly196=) rs2104441383
NM_032603.5(LOXL3):c.593C>A (p.Ser198Ter) rs1236265183
NM_032603.5(LOXL3):c.594G>C (p.Ser198=) rs781045766
NM_032603.5(LOXL3):c.594G>T (p.Ser198=) rs781045766
NM_032603.5(LOXL3):c.634G>A (p.Val212Met) rs762502885
NM_032603.5(LOXL3):c.65C>G (p.Ser22Trp) rs1161916684
NM_032603.5(LOXL3):c.670A>C (p.Arg224=)
NM_032603.5(LOXL3):c.687C>T (p.Phe229=) rs2104440836
NM_032603.5(LOXL3):c.77C>G (p.Ser26Cys) rs2104453673
NM_032603.5(LOXL3):c.94G>A (p.Gly32Ser) rs748837090
NM_032603.5(LOXL3):c.9T>C (p.Pro3=) rs2530042581

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