ClinVar Miner

List of variants reported as likely pathogenic for Argininosuccinate lyase deficiency

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ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00014
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000048.4(ASL):c.688A>G (p.Met230Val) rs143957662 0.00006
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000048.4(ASL):c.611T>C (p.Ile204Thr) rs745502369 0.00003
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00002
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn) rs778321544 0.00002
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461 0.00002
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00002
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00002
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00002
NM_000048.4(ASL):c.1062+5G>C rs779486497 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter) rs764546937 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn) rs373519615 0.00001
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) rs1211112295 0.00001
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000048.4(ASL):c.291+1G>T rs201523601 0.00001
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565 0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) rs138310841 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.349-1G>A rs1395478201 0.00001
NM_000048.4(ASL):c.34C>T (p.Arg12Trp) rs564735357 0.00001
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931 0.00001
NM_000048.4(ASL):c.446+2T>C rs1268519003 0.00001
NM_000048.4(ASL):c.446C>T (p.Ala149Val) rs777288665 0.00001
NM_000048.4(ASL):c.454G>A (p.Asp152Asn) rs780023054 0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) rs769017508 0.00001
NM_000048.4(ASL):c.502C>T (p.Arg168Cys) rs766832061 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.655G>C (p.Glu219Gln) rs944576125 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.846C>G (p.Ser282Arg) rs398123128 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000048.4(ASL):c.925G>A (p.Gly309Arg) rs769506424 0.00001
NM_000048.4(ASL):c.978+1G>A rs569859973 0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His) rs764356037 0.00001
NC_000007.13:g.(?_65556973)_(65557919_?)dup
NC_000007.13:g.(?_65556983)_(66460414_?)dup
NM_000048.4(ASL):c.104G>A (p.Trp35Ter) rs2484993553
NM_000048.4(ASL):c.1062+1G>T rs1554327825
NM_000048.4(ASL):c.1078A>G (p.Met360Val) rs2115760128
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.10dup (p.Glu4fs) rs2484978444
NM_000048.4(ASL):c.1105del (p.Leu369fs) rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly) rs28940287
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu) rs200853731
NM_000048.4(ASL):c.1138A>G (p.Lys380Glu) rs2485028603
NM_000048.4(ASL):c.1143+1G>A rs2485028634
NM_000048.4(ASL):c.1143+1G>C rs2485028634
NM_000048.4(ASL):c.1143+1G>T rs2485028634
NM_000048.4(ASL):c.1143+1del rs2485028623
NM_000048.4(ASL):c.1143+2T>G rs2115760718
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu) rs746120802
NM_000048.4(ASL):c.117del (p.Gln40fs) rs2484993652
NM_000048.4(ASL):c.118_119del (p.Gln40fs) rs2484993660
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) rs770167670
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg) rs727503812
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1249_1250+12del rs1554328381
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000048.4(ASL):c.13-2A>G rs2484993078
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1325del (p.Gly442fs) rs1554328479
NM_000048.4(ASL):c.1331C>T (p.Ala444Val) rs749788626
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter) rs1786894242
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) rs869312994
NM_000048.4(ASL):c.143del (p.Gly48fs) rs2484993833
NM_000048.4(ASL):c.175G>T (p.Glu59Ter)
NM_000048.4(ASL):c.176A>T (p.Glu59Val) rs2484994019
NM_000048.4(ASL):c.206A>G (p.Lys69Arg) rs2484994153
NM_000048.4(ASL):c.208-1G>A rs1487170309
NM_000048.4(ASL):c.208-1G>T rs1487170309
NM_000048.4(ASL):c.226C>T (p.Gln76Ter) rs373966403
NM_000048.4(ASL):c.243_244del (p.Asn82fs) rs2484995561
NM_000048.4(ASL):c.256G>T (p.Glu86Ter) rs1786532924
NM_000048.4(ASL):c.280C>A (p.Arg94Ser) rs374304304
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) rs1554326365
NM_000048.4(ASL):c.291+2T>C rs2484995844
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) rs202142867
NM_000048.4(ASL):c.29del (p.Gly10fs) rs2484993140
NM_000048.4(ASL):c.302G>A (p.Gly101Asp) rs775061205
NM_000048.4(ASL):c.305dup (p.Thr103fs) rs2484997333
NM_000048.4(ASL):c.311C>T (p.Ala104Val) rs2484997376
NM_000048.4(ASL):c.329dup (p.Arg111fs) rs2484997426
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr) rs756692067
NM_000048.4(ASL):c.348+1G>T rs2115698756
NM_000048.4(ASL):c.371G>A (p.Trp124Ter) rs1786558070
NM_000048.4(ASL):c.372G>A (p.Trp124Ter) rs1786558148
NM_000048.4(ASL):c.377G>T (p.Arg126Leu)
NM_000048.4(ASL):c.379C>T (p.Gln127Ter) rs1786558577
NM_000048.4(ASL):c.398C>A (p.Ser133Ter) rs748203708
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs) rs2484998272
NM_000048.4(ASL):c.426del (p.Met143fs) rs2115700686
NM_000048.4(ASL):c.434A>G (p.Asp145Gly) rs1348290958
NM_000048.4(ASL):c.436C>G (p.Arg146Gly) rs199938613
NM_000048.4(ASL):c.447-2A>G rs2485007765
NM_000048.4(ASL):c.454G>T (p.Asp152Tyr)
NM_000048.4(ASL):c.467C>A (p.Pro156Gln) rs769017508
NM_000048.4(ASL):c.478del (p.His160fs) rs2485007913
NM_000048.4(ASL):c.493C>T (p.Gln165Ter) rs2485008020
NM_000048.4(ASL):c.502del (p.Arg168fs)
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.509G>A (p.Ser170Asn) rs1180650883
NM_000048.4(ASL):c.525-1G>A rs1786673966
NM_000048.4(ASL):c.525_536del (p.Ser175_Ala179delinsArg)
NM_000048.4(ASL):c.544C>G (p.Arg182Gly) rs398123126
NM_000048.4(ASL):c.545G>C (p.Arg182Pro) rs751590073
NM_000048.4(ASL):c.569_573dup (p.Lys192fs) rs2485008761
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.57del (p.Ile20fs) rs2484993296
NM_000048.4(ASL):c.599G>T (p.Gly200Val) rs2115726233
NM_000048.4(ASL):c.603-1G>C rs1584028936
NM_000048.4(ASL):c.603-2A>C rs2485011270
NM_000048.4(ASL):c.603-2A>G rs2485011270
NM_000048.4(ASL):c.614C>T (p.Ala205Val) rs796051925
NM_000048.4(ASL):c.616G>A (p.Gly206Ser) rs2485011388
NM_000048.4(ASL):c.617G>A (p.Gly206Asp) rs760559303
NM_000048.4(ASL):c.617G>T (p.Gly206Val) rs760559303
NM_000048.4(ASL):c.623C>G (p.Pro208Arg) rs1263616535
NM_000048.4(ASL):c.629del (p.Gly210fs) rs2485011478
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.638G>C (p.Arg213Pro) rs1449589636
NM_000048.4(ASL):c.656-2A>C rs2485013520
NM_000048.4(ASL):c.656-2A>T rs2485013520
NM_000048.4(ASL):c.672dup (p.Ile225fs) rs2485013582
NM_000048.4(ASL):c.674T>C (p.Ile225Thr) rs774703196
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.689T>C (p.Met230Thr) rs2485013685
NM_000048.4(ASL):c.690G>A (p.Met230Ile) rs2115733193
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs) rs2485013731
NM_000048.4(ASL):c.711C>G (p.Asp237Glu) rs2485013779
NM_000048.4(ASL):c.718+1G>A rs1786714587
NM_000048.4(ASL):c.718+1G>C
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.721G>A (p.Glu241Lys) rs1786746301
NM_000048.4(ASL):c.721G>T (p.Glu241Ter) rs1786746301
NM_000048.4(ASL):c.723G>C (p.Glu241Asp) rs1409068410
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.736del (p.Ala246fs) rs2485017251
NM_000048.4(ASL):c.749T>A (p.Met250Lys)
NM_000048.4(ASL):c.754C>T (p.His252Tyr)
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) rs869312991
NM_000048.4(ASL):c.778C>T (p.Leu260Phe) rs2485017452
NM_000048.4(ASL):c.803del (p.Phe268fs) rs1584031242
NM_000048.4(ASL):c.814C>T (p.Gln272Ter) rs1786750679
NM_000048.4(ASL):c.834-1G>A rs768722904
NM_000048.4(ASL):c.857A>C (p.Gln286Pro) rs28941472
NM_000048.4(ASL):c.870del (p.Asp291fs) rs2485018766
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) rs869312992
NM_000048.4(ASL):c.918_919-31del rs2115742136
NM_000048.4(ASL):c.919-1G>A rs1786770612
NM_000048.4(ASL):c.919del (p.Cys307fs)
NM_000048.4(ASL):c.932T>C (p.Leu311Pro) rs2485019558
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter) rs2485019700
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938
NM_000048.4(ASL):c.974T>G (p.Leu325Ter) rs756339957
NM_000048.4(ASL):c.999_1000del (p.Phe333fs) rs2485021324

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