ClinVar Miner

List of variants in gene ADSL studied for not provided

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Gene type:
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Total variants: 112
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HGVS dbSNP
NC_000022.11:g.40346413C>T rs909669
NM_000026.4(ADSL):c.-22C>T rs746438478
NM_000026.4(ADSL):c.-35G>A rs750649096
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.1010+45C>G rs11913275
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) rs772974251
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys) rs780994144
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) rs752238667
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1101+158T>C rs2068470
NM_000026.4(ADSL):c.1101+233A>G rs17001863
NM_000026.4(ADSL):c.1102-230C>T rs56408831
NM_000026.4(ADSL):c.1102-77T>G rs116718400
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) rs150228971
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) rs568567422
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) rs1555908924
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) rs796052247
NM_000026.4(ADSL):c.113C>G (p.Thr38Arg) rs747976292
NM_000026.4(ADSL):c.114A>G (p.Thr38=) rs377588571
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778
NM_000026.4(ADSL):c.1272A>T (p.Ile424=) rs1057522571
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) rs796052248
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) rs758241731
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863
NM_000026.4(ADSL):c.1337_1339CTT[2] (p.Ser448del) rs796052252
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe) rs749427506
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) rs372895468
NM_000026.4(ADSL):c.1359C>T (p.Ala453=) rs1601598300
NM_000026.4(ADSL):c.1368+10C>T rs1330219053
NM_000026.4(ADSL):c.1368+3A>G rs761279806
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.1414T>C (p.Tyr472His) rs1057521795
NM_000026.4(ADSL):c.1422C>T (p.Ser474=) rs748593655
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250
NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) rs767124073
NM_000026.4(ADSL):c.153+116A>G rs3788577
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.153+206C>T rs3788578
NM_000026.4(ADSL):c.153+274T>C rs3788579
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile) rs796052251
NM_000026.4(ADSL):c.20A>G (p.His7Arg) rs377248090
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.247C>T (p.Arg83Cys) rs780425464
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) rs149165656
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) rs761359362
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) rs368501116
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.357+172T>C rs8192455
NM_000026.4(ADSL):c.357+173C>T rs8192456
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.403-7C>A rs1601565699
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458
NM_000026.4(ADSL):c.429C>T (p.Ala143=) rs754065119
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.465A>G (p.Leu155=) rs139543370
NM_000026.4(ADSL):c.482+281T>C rs10854729
NM_000026.4(ADSL):c.482+5G>A rs886042934
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457
NM_000026.4(ADSL):c.483-226G>A rs17001854
NM_000026.4(ADSL):c.483-41_483-38del rs3830737
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.56C>G (p.Ser19Cys) rs1555903913
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) rs143083947
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.793-49A>C rs8135371
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126
NM_000026.4(ADSL):c.828G>C (p.Lys276Asn) rs796052245
NM_000026.4(ADSL):c.853C>T (p.Gln285Ter) rs796052246
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) rs376912453
NM_000026.4(ADSL):c.863-11T>C rs375532126
NM_000026.4(ADSL):c.873G>A (p.Ala291=) rs765122847
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) rs369617680
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524
NM_000026.4(ADSL):c.926G>A (p.Arg309His) rs749817666
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123

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