List of variants reported as uncertain significance for argininosuccinic aciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 153

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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.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.209T>C (p.Val70Ala)	rs1027739421	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.-44+9G>A	rs558890925
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.269C>A (p.Thr90Lys)
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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