ClinVar Miner

List of variants in gene ADSL reported as pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000026.4(ADSL):c.1191+5G>C rs773404017 0.00019
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
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.-49T>C rs1272053459 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) rs746501563 0.00002
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) rs376533026 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.1339T>C (p.Ser447Pro) rs777821034 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.253C>T (p.Arg85Ter) rs1036185928 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) rs1257907226 0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195 0.00001
NC_000022.10:g.(40757640_40758984)_(40761061_40762439)del
NC_000022.10:g.(?_40741451)_(40756516_?)del
NC_000022.10:g.(?_40749057)_(40750351_?)del
NC_000022.10:g.(?_40749057)_(40756516_?)del
NC_000022.10:g.(?_40754848)_(40762526_?)del
NC_000022.11:g.(?_40346510)_(40366542_?)del
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.1026del (p.Glu343fs) rs2146667709
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1187del (p.Arg396fs) rs2044916556
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) rs747964752
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro) rs119450940
NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del) rs796052252
NM_000026.4(ADSL):c.1346dup (p.Thr450fs)
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter) rs774435749
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter) rs1193437955
NM_000026.4(ADSL):c.183A>C (p.Gln61His) rs1601551862
NM_000026.4(ADSL):c.187del (p.Gln63fs) rs2146622848
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) rs1601552154
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) rs119450942
NM_000026.4(ADSL):c.372del (p.Arg125fs)
NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)
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.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter) rs1410270058
NM_000026.4(ADSL):c.666del (p.Asp223fs) rs1268082439
NM_000026.4(ADSL):c.674T>C (p.Met225Thr) rs119450945
NM_000026.4(ADSL):c.701+1G>A rs546878201
NM_000026.4(ADSL):c.701+1G>T
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter) rs2146658733
NM_000026.4(ADSL):c.802G>C (p.Asp268His)
NM_000026.4(ADSL):c.807dup (p.Arg270fs)
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter) rs2044777708
NM_000026.4(ADSL):c.955del (p.Leu319fs) rs1569099793
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter) rs2044792794

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