ClinVar Miner

List of variants in gene ADSL studied for not provided

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Gene type:
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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.482+281T>C rs10854729 0.29578
NM_000026.4(ADSL):c.153+116A>G rs3788577 0.21169
NM_000026.4(ADSL):c.153+274T>C rs3788579 0.21162
NM_000026.4(ADSL):c.153+206C>T rs3788578 0.21140
NC_000022.11:g.40346413C>T rs909669 0.21102
NM_000026.4(ADSL):c.483-41_483-38del rs3830737 0.16562
NM_000026.4(ADSL):c.793-49A>C rs8135371 0.12889
NM_000026.4(ADSL):c.1101+233A>G rs17001863 0.12034
NM_000026.4(ADSL):c.357+172T>C rs8192455 0.10294
NM_000026.4(ADSL):c.357+173C>T rs8192456 0.10273
NM_000026.4(ADSL):c.357+111T>C rs186758682 0.03459
NM_000026.4(ADSL):c.701+113A>G rs73885691 0.03257
NM_000026.4(ADSL):c.402+281C>T rs12160297 0.03002
NM_000026.4(ADSL):c.1192-59T>G rs8142978 0.02879
NM_000026.4(ADSL):c.1101+158T>C rs2068470 0.02772
NM_000026.4(ADSL):c.357+238A>G rs143135693 0.02608
NM_000026.4(ADSL):c.792+148A>C rs17001857 0.02425
NM_000026.4(ADSL):c.1102-230C>T rs56408831 0.02137
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_000026.4(ADSL):c.403-101C>T rs148116795 0.01584
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.1010+45C>G rs11913275 0.01284
NM_000026.4(ADSL):c.1102-77T>G rs116718400 0.00984
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000026.4(ADSL):c.483-226G>A rs17001854 0.00807
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461 0.00121
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.1191+9C>T rs371706528 0.00047
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971 0.00019
NM_000026.4(ADSL):c.1191+5G>C rs773404017 0.00019
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577 0.00016
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251 0.00006
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116 0.00006
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453 0.00006
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000026.4(ADSL):c.1102-18C>G rs764157832 0.00005
NM_000026.4(ADSL):c.1192-5C>T rs563441974 0.00005
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NM_000026.4(ADSL):c.*20G>A rs750512596 0.00004
NM_000026.4(ADSL):c.-35G>A rs750649096 0.00004
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222 0.00004
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422 0.00004
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778 0.00004
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731 0.00004
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273 0.00004
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584 0.00003
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln) rs540648461 0.00003
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667 0.00002
NM_000026.4(ADSL):c.1368+3A>G rs761279806 0.00002
NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) rs767124073 0.00002
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090 0.00002
NM_000026.4(ADSL):c.406G>A (p.Ala136Thr) rs773964967 0.00002
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000026.4(ADSL):c.541A>G (p.Met181Val) rs768542145 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680 0.00002
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144 0.00001
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala) rs758895348 0.00001
NM_000026.4(ADSL):c.1089C>T (p.Val363=) rs368373129 0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) rs752104617 0.00001
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026 0.00001
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) rs796052247 0.00001
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) rs755492501 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) rs571597579 0.00001
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) rs796052248 0.00001
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506 0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) rs372895468 0.00001
NM_000026.4(ADSL):c.1369-17T>C rs758511561 0.00001
NM_000026.4(ADSL):c.1414T>C (p.Tyr472His) rs1057521795 0.00001
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250 0.00001
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928 0.00001
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656 0.00001
NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) rs761359362 0.00001
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221 0.00001
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457 0.00001
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys) rs1465152683 0.00001
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184 0.00001
NM_000026.4(ADSL):c.793-5C>A rs377164829 0.00001
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126 0.00001
NM_000026.4(ADSL):c.828G>C (p.Lys276Asn) rs796052245 0.00001
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) rs371529148 0.00001
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) rs776328750 0.00001
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123 0.00001
NM_000026.4(ADSL):c.-22C>T rs746438478
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1102-190dup rs397934210
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) rs1555908924
NM_000026.4(ADSL):c.113C>G (p.Thr38Arg) rs747976292
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
NM_000026.4(ADSL):c.1272A>T (p.Ile424=) rs1057522571
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del) rs796052252
NM_000026.4(ADSL):c.1391A>T (p.Glu464Val) rs796052249
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) rs765813625
NM_000026.4(ADSL):c.183A>C (p.Gln61His) rs1601551862
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn) rs745787396
NM_000026.4(ADSL):c.240A>C (p.Glu80Asp) rs1064794245
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.357+112del rs373063501
NM_000026.4(ADSL):c.357+112dup rs373063501
NM_000026.4(ADSL):c.357+7G>T rs199993991
NM_000026.4(ADSL):c.402+157TTC[2] rs369736989
NM_000026.4(ADSL):c.402+1G>T rs761551284
NM_000026.4(ADSL):c.482+5G>A rs886042934
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
NM_000026.4(ADSL):c.562C>T (p.Arg188Cys) rs371892194
NM_000026.4(ADSL):c.56C>G (p.Ser19Cys) rs1555903913
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) rs143083947
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.792+246dup rs11431892
NM_000026.4(ADSL):c.807dup (p.Arg270fs)
NM_000026.4(ADSL):c.823C>T (p.Leu275Phe) rs2146662065
NM_000026.4(ADSL):c.853C>T (p.Gln285Ter) rs796052246
NM_000026.4(ADSL):c.863-11T>C rs375532126
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly) rs2146663371

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