ClinVar Miner

List of variants in gene ASL reported as uncertain significance for Argininosuccinate lyase deficiency

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.*395C>T rs140184651 0.00090
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000048.4(ASL):c.291+4C>T rs368188924 0.00046
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000048.4(ASL):c.*286T>A rs555884175 0.00011
NM_000048.4(ASL):c.-31G>A rs766867890 0.00011
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000048.4(ASL):c.1270G>A (p.Val424Met) rs368264870 0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000048.4(ASL):c.-16C>T rs372229504 0.00005
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000048.4(ASL):c.*11A>G rs199571661 0.00004
NM_000048.4(ASL):c.-34A>G rs913916151 0.00004
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000048.4(ASL):c.1358G>A (p.Arg453His) rs762805462 0.00004
NM_000048.4(ASL):c.656-6C>G rs374259737 0.00004
NM_000048.4(ASL):c.718+3G>A rs368266194 0.00004
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) rs781031440 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.155C>T (p.Ala52Val) rs886062405 0.00003
NM_000048.4(ASL):c.209T>C (p.Val70Ala) rs1027739421 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.748A>G (p.Met250Val) rs374908945 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000048.4(ASL):c.938C>A (p.Thr313Asn) rs1410031530 0.00003
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys) rs761034915 0.00002
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys) rs1465800300 0.00002
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) rs148669165 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000048.4(ASL):c.326C>T (p.Thr109Met) rs146123574 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.77C>T (p.Ala26Val) rs761046404 0.00002
NM_000048.4(ASL):c.918+5G>A rs781331391 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000048.4(ASL):c.*93C>T rs1362861443 0.00001
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) rs771476376 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr) rs757216794 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr) rs1415535789 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.584A>G (p.Asn195Ser) rs1409298819 0.00001
NM_000048.4(ASL):c.613G>A (p.Ala205Thr) rs771531271 0.00001
NM_000048.4(ASL):c.713T>A (p.Phe238Tyr) rs754283030 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.76G>A (p.Ala26Thr) rs775839623 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.833+4A>G rs375854730 0.00001
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) rs1085307952 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.95G>A (p.Arg32Gln) rs149108910 0.00001
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) rs398123129 0.00001
NC_000007.13:g.(?_65541069)_(65557899_?)dup
NC_000007.13:g.(?_65546770)_(65557899_?)dup
NC_000007.13:g.(?_65551562)_(65557909_?)dup
NC_000007.14:g.(?_66076062)_(66092932_?)dup
NC_000007.14:g.(?_66086565)_(66092932_?)dup
NM_000048.4(ASL):c.1040C>T (p.Thr347Ile)
NM_000048.4(ASL):c.1049T>C (p.Ile350Thr)
NM_000048.4(ASL):c.1063-14_1063-5del
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys) rs372785881
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.1095C>T (p.Ser365=) rs749559501
NM_000048.4(ASL):c.1102A>G (p.Met368Val) rs1554328202
NM_000048.4(ASL):c.1143+6T>A rs2115760756
NM_000048.4(ASL):c.115G>T (p.Val39Phe)
NM_000048.4(ASL):c.1164C>G (p.His388Gln) rs75300185
NM_000048.4(ASL):c.1174G>A (p.Gly392Arg)
NM_000048.4(ASL):c.1218C>G (p.Asn406Lys) rs2115764896
NM_000048.4(ASL):c.1279G>A (p.Val427Met)
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.131C>G (p.Ala44Gly) rs2115691157
NM_000048.4(ASL):c.1334G>A (p.Arg445His)
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu)
NM_000048.4(ASL):c.1382C>T (p.Ala461Val)
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.145C>A (p.Leu49Met)
NM_000048.4(ASL):c.207G>A (p.Lys69=) rs886043007
NM_000048.4(ASL):c.229G>C (p.Gly77Arg)
NM_000048.4(ASL):c.231C>T (p.Gly77=) rs2115694497
NM_000048.4(ASL):c.287T>C (p.Leu96Pro) rs1483600747
NM_000048.4(ASL):c.291+3A>G
NM_000048.4(ASL):c.291G>A (p.Lys97=)
NM_000048.4(ASL):c.29G>A (p.Gly10Asp) rs1786510603
NM_000048.4(ASL):c.385T>A (p.Cys129Ser)
NM_000048.4(ASL):c.388T>C (p.Ser130Pro)
NM_000048.4(ASL):c.398C>G (p.Ser133Trp)
NM_000048.4(ASL):c.398C>T (p.Ser133Leu)
NM_000048.4(ASL):c.400G>A (p.Gly134Ser) rs2115700439
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000048.4(ASL):c.404T>G (p.Leu135Arg) rs1786559599
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.440C>A (p.Ala147Glu) rs1786561465
NM_000048.4(ASL):c.446+3G>C
NM_000048.4(ASL):c.452G>A (p.Arg151His)
NM_000048.4(ASL):c.485A>G (p.Gln162Arg) rs1554327025
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000048.4(ASL):c.490G>C (p.Ala164Pro)
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.521T>C (p.Leu174Pro) rs2115724599
NM_000048.4(ASL):c.530C>G (p.Ala177Gly) rs2115725413
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.586G>A (p.Val196Ile)
NM_000048.4(ASL):c.5C>A (p.Ala2Asp)
NM_000048.4(ASL):c.655+5G>A
NM_000048.4(ASL):c.671C>T (p.Ala224Val) rs2115733053
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.686G>C (p.Ser229Thr) rs1554327272
NM_000048.4(ASL):c.697A>T (p.Thr233Ser)
NM_000048.4(ASL):c.698C>G (p.Thr233Ser) rs1229119110
NM_000048.4(ASL):c.717G>A (p.Val239=)
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.736G>A (p.Ala246Thr)
NM_000048.4(ASL):c.746G>T (p.Cys249Phe) rs2115739143
NM_000048.4(ASL):c.785T>C (p.Leu262Pro) rs1554327586
NM_000048.4(ASL):c.811G>T (p.Val271Leu)
NM_000048.4(ASL):c.834-5C>A
NM_000048.4(ASL):c.837G>A (p.Thr279=)
NM_000048.4(ASL):c.871G>A (p.Asp291Asn)
NM_000048.4(ASL):c.907G>A (p.Val303Met)
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) rs868834862
NM_000048.4(ASL):c.917G>C (p.Arg306Pro) rs755245694
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) rs1168345442
NM_000048.4(ASL):c.944A>G (p.Lys315Arg)
NM_000048.4(ASL):c.94C>T (p.Arg32Trp)
NM_000048.4(ASL):c.966_974dup (p.Asp324_Leu325insPheLysAsp) rs2115743637
NM_000048.4(ASL):c.978+5G>A
NM_000048.4(ASL):c.979-3C>T
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823

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