ClinVar Miner

List of variants in gene ADSL studied for Adenylosuccinate lyase deficiency

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Gene type:
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Total variants: 142
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HGVS dbSNP
ADSL, -49T-C, PROMOTER
NC_000022.10:g.(?_40742514)_(40762546_?)dup
NC_000022.11:g.(?_40346510)_(40353137_?)dup
NC_000022.11:g.(?_40346510)_(40366542_?)del
NC_000022.11:g.(?_40358844)_(40366542_?)del
NC_000022.11:g.(?_40364256)_(40366542_?)dup
NC_000022.11:g.40346495C>A
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.*45A>T rs180726920
NM_000026.4(ADSL):c.-29G>C
NM_000026.4(ADSL):c.-35G>T rs750649096
NM_000026.4(ADSL):c.1011-3T>C rs1376448837
NM_000026.4(ADSL):c.1011-9G>C
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451
NM_000026.4(ADSL):c.1102-6C>G
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) rs755688868
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) rs777359946
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser) rs778401578
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.1152_1154CAT[2] (p.Ile386del) rs1601596522
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1191+9C>T rs371706528
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) rs781253590
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr) rs1196254689
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) rs886057505
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) rs145750778
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
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.1312T>C (p.Ser438Pro) rs119450940
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.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) rs1265053994
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) rs200300396
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)
NM_000026.4(ADSL):c.1368+8del rs758319423
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) rs1569104977
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) rs768999974
NM_000026.4(ADSL):c.1413A>G (p.Pro471=) rs796674225
NM_000026.4(ADSL):c.154-7del rs1452778583
NM_000026.4(ADSL):c.154-9A>G rs762257005
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) rs1380095056
NM_000026.4(ADSL):c.15C>T (p.Gly5=)
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)
NM_000026.4(ADSL):c.16G>C (p.Asp6His) rs140064577
NM_000026.4(ADSL):c.183A>C (p.Gln61His) rs1601551862
NM_000026.4(ADSL):c.205C>G (p.Leu69Val) rs200169254
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
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.268G>A (p.Ala90Thr) rs1601552154
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.273C>T (p.His91=) rs148303726
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) rs119450942
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.347G>A (p.Gly116Glu)
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.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg) rs773098808
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) rs771267221
NM_000026.4(ADSL):c.402+1G>T rs761551284
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.407C>T (p.Ala136Val) rs1569091418
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu) rs371824098
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly) rs147194356
NM_000026.4(ADSL):c.482+8A>G rs886042606
NM_000026.4(ADSL):c.541A>G (p.Met181Val) rs768542145
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) rs768542145
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
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.578T>C (p.Leu193Pro)
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp) rs376533106
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser) rs745524617
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr) rs776615568
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.649C>T (p.His217Tyr) rs199761158
NM_000026.4(ADSL):c.655G>A (p.Val219Ile) rs1555907605
NM_000026.4(ADSL):c.674T>C (p.Met225Thr) rs119450945
NM_000026.4(ADSL):c.702-3T>A
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) rs775115015
NM_000026.4(ADSL):c.779C>T (p.Ala260Val) rs1601586537
NM_000026.4(ADSL):c.793-3C>T
NM_000026.4(ADSL):c.801C>T (p.Thr267=) rs369069575
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) rs759104126
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) rs371529148
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)
NM_000026.4(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)
NM_000026.4(ADSL):c.862+10G>A rs747275092
NM_000026.4(ADSL):c.870T>C (p.Ser290=) rs146890981
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) rs8192461
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.896T>C (p.Met299Thr) rs1364564756
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) rs369617680
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) rs1006262492
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.962C>T (p.Thr321Ile)
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123
NM_000026.4(ADSL):c.994G>C (p.Asp332His) rs776496275

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