ClinVar Miner

List of variants reported as likely benign for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NC_000022.11:g.40346167C>T rs561082270 0.00064
NM_000026.4(ADSL):c.1191+9C>T rs371706528 0.00047
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132 0.00046
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.363G>A (p.Leu121=) rs138203195 0.00036
NC_000022.11:g.40346253G>A rs912673794 0.00031
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.482+9T>C rs770663865 0.00011
NM_000026.4(ADSL):c.1102-16G>A rs200428249 0.00010
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886 0.00010
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500 0.00008
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.1011-9G>C rs780794164 0.00004
NM_000026.4(ADSL):c.1102-4A>G rs371780382 0.00004
NM_000026.4(ADSL):c.153+7G>A rs376477242 0.00004
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273 0.00004
NM_000026.4(ADSL):c.801C>T (p.Thr267=) rs369069575 0.00004
NM_000026.4(ADSL):c.870T>C (p.Ser290=) rs146890981 0.00004
NM_000026.4(ADSL):c.1422C>T (p.Ser474=) rs748593655 0.00003
NM_000026.4(ADSL):c.273C>T (p.His91=) rs148303726 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.1102-17C>T rs754015340 0.00002
NM_000026.4(ADSL):c.114A>G (p.Thr38=) rs377588571 0.00002
NM_000026.4(ADSL):c.1368+10C>T rs1330219053 0.00002
NM_000026.4(ADSL):c.438T>C (p.Ala146=) rs779272702 0.00002
NM_000026.4(ADSL):c.862+10G>A rs747275092 0.00002
NM_000026.4(ADSL):c.879A>G (p.Pro293=) rs758359453 0.00002
NM_000026.4(ADSL):c.894C>T (p.Pro298=) rs145469983 0.00002
NM_000026.4(ADSL):c.1011-13A>G rs768058696 0.00001
NM_000026.4(ADSL):c.1011-18T>C rs779350776 0.00001
NM_000026.4(ADSL):c.1041C>T (p.Thr347=) rs767608764 0.00001
NM_000026.4(ADSL):c.1071C>T (p.Asn357=) rs1455722783 0.00001
NM_000026.4(ADSL):c.1089C>T (p.Val363=) rs368373129 0.00001
NM_000026.4(ADSL):c.1102-15dup rs1413779867 0.00001
NM_000026.4(ADSL):c.1191+8A>T rs1288865818 0.00001
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) rs200300396 0.00001
NM_000026.4(ADSL):c.1369-17T>C rs758511561 0.00001
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=) rs777123162 0.00001
NM_000026.4(ADSL):c.1444T>C (p.Leu482=) rs938446288 0.00001
NM_000026.4(ADSL):c.153+17T>C rs369553804 0.00001
NM_000026.4(ADSL):c.154-9A>G rs762257005 0.00001
NM_000026.4(ADSL):c.15C>A (p.Gly5=) rs751781160 0.00001
NM_000026.4(ADSL):c.255A>G (p.Arg85=) rs747492297 0.00001
NM_000026.4(ADSL):c.342T>C (p.Tyr114=) rs147017931 0.00001
NM_000026.4(ADSL):c.358-5C>T rs769856337 0.00001
NM_000026.4(ADSL):c.417C>T (p.Ile139=) rs1250387068 0.00001
NM_000026.4(ADSL):c.429C>T (p.Ala143=) rs754065119 0.00001
NM_000026.4(ADSL):c.42C>T (p.Arg14=) rs768010749 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000026.4(ADSL):c.465A>G (p.Leu155=) rs139543370 0.00001
NM_000026.4(ADSL):c.528T>C (p.Ile176=) rs534209963 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.655-11T>G rs780906231 0.00001
NM_000026.4(ADSL):c.702-19C>G rs1396036308 0.00001
NM_000026.4(ADSL):c.754C>T (p.Leu252=) rs1475251951 0.00001
NM_000026.4(ADSL):c.789C>T (p.His263=) rs772388333 0.00001
NM_000026.4(ADSL):c.793-4C>T rs762409643 0.00001
NM_000026.4(ADSL):c.862+13T>C rs768716895 0.00001
NM_000026.4(ADSL):c.873G>A (p.Ala291=) rs765122847 0.00001
NC_000022.11:g.40345590G>C rs897965743
NC_000022.11:g.40346432C>T rs190560535
NM_000026.4(ADSL):c.1005C>G (p.Ala335=)
NM_000026.4(ADSL):c.1011-17G>A
NM_000026.4(ADSL):c.1026C>T (p.Ala342=) rs1280553241
NM_000026.4(ADSL):c.1029G>A (p.Glu343=)
NM_000026.4(ADSL):c.1062G>A (p.Thr354=)
NM_000026.4(ADSL):c.1080A>G (p.Glu360=)
NM_000026.4(ADSL):c.1092G>A (p.Val364=) rs1303477707
NM_000026.4(ADSL):c.1101+10C>T rs1274084136
NM_000026.4(ADSL):c.1102-12C>G
NM_000026.4(ADSL):c.1102-14A>G
NM_000026.4(ADSL):c.1102-16G>T rs200428249
NM_000026.4(ADSL):c.1102-6C>G rs758666194
NM_000026.4(ADSL):c.1102-7C>T rs1001524766
NM_000026.4(ADSL):c.1122G>T (p.Arg374=) rs2146671725
NM_000026.4(ADSL):c.1128G>A (p.Glu376=) rs796052247
NM_000026.4(ADSL):c.1152C>T (p.Asn384=)
NM_000026.4(ADSL):c.1191+10C>G rs974462495
NM_000026.4(ADSL):c.1191+11C>A rs1057523739
NM_000026.4(ADSL):c.1191+12dup rs1383604211
NM_000026.4(ADSL):c.1191+17G>A rs1160304907
NM_000026.4(ADSL):c.1192-11T>C
NM_000026.4(ADSL):c.1192-12C>T
NM_000026.4(ADSL):c.1192-20A>C
NM_000026.4(ADSL):c.1192-20A>G
NM_000026.4(ADSL):c.1266C>T (p.Asp422=)
NM_000026.4(ADSL):c.1269C>A (p.Leu423=) rs2146673771
NM_000026.4(ADSL):c.1314C>G (p.Ser438=) rs2146674013
NM_000026.4(ADSL):c.1317G>A (p.Gln439=)
NM_000026.4(ADSL):c.1318T>C (p.Leu440=) rs2044946403
NM_000026.4(ADSL):c.1338T>G (p.Pro446=)
NM_000026.4(ADSL):c.1359C>T (p.Ala453=) rs1601598300
NM_000026.4(ADSL):c.1368+14A>C
NM_000026.4(ADSL):c.1368+18C>T
NM_000026.4(ADSL):c.1368+8del rs758319423
NM_000026.4(ADSL):c.1369-19A>G
NM_000026.4(ADSL):c.1369-7C>G rs780296394
NM_000026.4(ADSL):c.136C>T (p.Leu46=)
NM_000026.4(ADSL):c.1380C>T (p.Phe460=) rs2146678362
NM_000026.4(ADSL):c.1381T>C (p.Leu461=)
NM_000026.4(ADSL):c.1413A>G (p.Pro471=) rs796674225
NM_000026.4(ADSL):c.1452G>C (p.Leu484=)
NM_000026.4(ADSL):c.153+10C>A rs751038604
NM_000026.4(ADSL):c.153+10C>G
NM_000026.4(ADSL):c.153+12C>T rs780869214
NM_000026.4(ADSL):c.153+16C>G
NM_000026.4(ADSL):c.153+18G>A
NM_000026.4(ADSL):c.153+19A>G rs2146613300
NM_000026.4(ADSL):c.153+7G>C
NM_000026.4(ADSL):c.154-12C>T
NM_000026.4(ADSL):c.154-7del rs1452778583
NM_000026.4(ADSL):c.15C>T (p.Gly5=) rs751781160
NM_000026.4(ADSL):c.225G>A (p.Lys75=)
NM_000026.4(ADSL):c.282A>G (p.Thr94=)
NM_000026.4(ADSL):c.357+10T>G rs2146623665
NM_000026.4(ADSL):c.357+15_357+22dup
NM_000026.4(ADSL):c.357+7G>T rs199993991
NM_000026.4(ADSL):c.393T>C (p.Leu131=)
NM_000026.4(ADSL):c.39C>T (p.Tyr13=)
NM_000026.4(ADSL):c.402+12G>C
NM_000026.4(ADSL):c.402+18G>A rs753085563
NM_000026.4(ADSL):c.403-16A>G
NM_000026.4(ADSL):c.403-21_403-6del
NM_000026.4(ADSL):c.403-5T>C
NM_000026.4(ADSL):c.403-7C>A rs1601565699
NM_000026.4(ADSL):c.403-7C>T rs1601565699
NM_000026.4(ADSL):c.403-7del
NM_000026.4(ADSL):c.414G>A (p.Val138=)
NM_000026.4(ADSL):c.414G>C (p.Val138=)
NM_000026.4(ADSL):c.435T>C (p.Phe145=) rs2146638742
NM_000026.4(ADSL):c.462A>G (p.Thr154=) rs963510054
NM_000026.4(ADSL):c.480C>T (p.Phe160=)
NM_000026.4(ADSL):c.482+16A>C rs921958536
NM_000026.4(ADSL):c.482+16A>T
NM_000026.4(ADSL):c.483-13T>C
NM_000026.4(ADSL):c.483-14C>T
NM_000026.4(ADSL):c.483-19G>A
NM_000026.4(ADSL):c.555C>T (p.Asn185=)
NM_000026.4(ADSL):c.576C>A (p.Asp192Glu)
NM_000026.4(ADSL):c.587G>T (p.Arg196Leu)
NM_000026.4(ADSL):c.60C>T (p.Arg20=)
NM_000026.4(ADSL):c.621T>C (p.Ser207=)
NM_000026.4(ADSL):c.633C>G (p.Leu211=)
NM_000026.4(ADSL):c.655-14C>A
NM_000026.4(ADSL):c.655-16G>C
NM_000026.4(ADSL):c.655-9C>G rs1334564416
NM_000026.4(ADSL):c.684A>G (p.Glu228=) rs2146654775
NM_000026.4(ADSL):c.701+16T>A
NM_000026.4(ADSL):c.701+7A>C
NM_000026.4(ADSL):c.702-15T>C rs2146658569
NM_000026.4(ADSL):c.702-5C>G rs751224448
NM_000026.4(ADSL):c.702-7T>A rs201509960
NM_000026.4(ADSL):c.708C>T (p.Phe236=) rs1210367027
NM_000026.4(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.4(ADSL):c.780A>C (p.Ala260=)
NM_000026.4(ADSL):c.792+15C>T
NM_000026.4(ADSL):c.792+17T>C
NM_000026.4(ADSL):c.793-11A>G
NM_000026.4(ADSL):c.793-13C>T
NM_000026.4(ADSL):c.793-19A>C
NM_000026.4(ADSL):c.816G>A (p.Leu272=)
NM_000026.4(ADSL):c.831G>A (p.Glu277=)
NM_000026.4(ADSL):c.837G>A (p.Glu279=)
NM_000026.4(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.4(ADSL):c.862+14A>G
NM_000026.4(ADSL):c.862+9T>C
NM_000026.4(ADSL):c.863-11T>C rs375532126
NM_000026.4(ADSL):c.863-12T>C
NM_000026.4(ADSL):c.863-18C>T rs2146662900
NM_000026.4(ADSL):c.863-20T>G rs760407114
NM_000026.4(ADSL):c.885G>A (p.Lys295=)
NM_000026.4(ADSL):c.954G>A (p.Pro318=)
NM_000026.4(ADSL):c.990A>G (p.Thr330=)
NM_000026.4(ADSL):c.999T>C (p.Asp333=) rs2146663670
NM_000026.4(ADSL):c.9T>C (p.Ala3=) rs758676257

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