ClinVar Miner

List of variants in gene ADSL reported by GeneDx

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Gene type:
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Total variants: 124
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HGVS dbSNP
NC_000022.11:g.40346413C>T
NM_000026.4(ADSL):c.-22C>T rs746438478
NM_000026.4(ADSL):c.-35G>A rs750649096
NM_000026.4(ADSL):c.-37C>G rs372357778
NM_000026.4(ADSL):c.-8G>A rs560389412
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.1010+18A>G rs201019280
NM_000026.4(ADSL):c.1010+45C>G
NM_000026.4(ADSL):c.1011-23_1011-20del rs767894204
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.1026C>T (p.Ala342=) rs1280553241
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.1089C>T (p.Val363=) rs368373129
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1101+158T>C
NM_000026.4(ADSL):c.1101+233A>G
NM_000026.4(ADSL):c.1102-16G>A rs200428249
NM_000026.4(ADSL):c.1102-230C>T
NM_000026.4(ADSL):c.1102-77T>G
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.1167G>A (p.Met389Ile) rs766782678
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1191+11C>A rs1057523739
NM_000026.4(ADSL):c.1191+16T>C rs779771191
NM_000026.4(ADSL):c.1191+9C>T rs371706528
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
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.1368+8del rs758319423
NM_000026.4(ADSL):c.1369-17T>C rs758511561
NM_000026.4(ADSL):c.1369-7C>G rs780296394
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.1439C>G (p.Ala480Gly) rs796052250
NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg) rs767124073
NM_000026.4(ADSL):c.153+116A>G
NM_000026.4(ADSL):c.153+11C>G rs754451782
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.153+206C>T
NM_000026.4(ADSL):c.153+274T>C
NM_000026.4(ADSL):c.153+7G>A rs376477242
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.216C>T (p.Ile72=) rs145786986
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.271C>T (p.His91Tyr) rs755518176
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132
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
NM_000026.4(ADSL):c.357+173C>T
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.358-5C>T rs769856337
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221
NM_000026.4(ADSL):c.403-11C>T rs1057520899
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.406G>A (p.Ala136Thr) rs773964967
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.42C>T (p.Arg14=) rs768010749
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.482+281T>C
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) rs8192457
NM_000026.4(ADSL):c.483-15T>C rs1057520995
NM_000026.4(ADSL):c.483-226G>A
NM_000026.4(ADSL):c.483-41_483-38del
NM_000026.4(ADSL):c.558G>A (p.Leu186=) rs1555907486
NM_000026.4(ADSL):c.563G>A (p.Arg188His) rs761937276
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500
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.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.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.75G>A (p.Glu25=) rs1057522536
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.792+8G>T rs777198113
NM_000026.4(ADSL):c.793-49A>C
NM_000026.4(ADSL):c.793-5C>A rs377164829
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
NM_000026.4(ADSL):c.863-20T>G rs760407114
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357
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.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
NM_000026.4(ADSL):c.9T>C (p.Ala3=) rs758676257

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