List of variants reported as pathogenic 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: 127

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.532G>A (p.Val178Met)	rs28941473	0.00034
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00015
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.446+1G>A	rs142637046	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.544C>T (p.Arg182Ter)	rs398123126	0.00005
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)	rs369879957	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.338G>A (p.Arg113Gln)	rs752783461	0.00002
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)	rs199938613	0.00002
NM_000048.4(ASL):c.447-1G>A	rs778254333	0.00002
NM_000048.4(ASL):c.524+2T>G	rs869312976	0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)	rs752397242	0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr)	rs774392615	0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	rs761651320	0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000048.4(ASL):c.918+5G>A	rs781331391	0.00002
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670	0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)	rs727503812	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	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.376C>T (p.Arg126Trp)	rs201962738	0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	rs777235530	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.467C>T (p.Pro156Leu)	rs769017508	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.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.719-1G>A	rs369828060	0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)	rs924321091	0.00001
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)	rs1405344068	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NC_000007.13:g.(?_65546932)_(65549932_?)del
NC_000007.13:g.(?_65547857)_(65548171_?)del
NC_000007.13:g.(?_65557534)_(65557909_?)del
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_66076062)_(66092932_?)del
NC_000007.14:g.(?_66076072)_(66092922_?)del
NC_000007.14:g.(?_66081783)_(66083194_?)del
NM_000048.3(ASL):c.292delG	rs869312987
NM_000048.3(ASL):c.979delG	rs1584032751
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)	rs796051933
NM_000048.4(ASL):c.1045_1062+7del	rs1329070853
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)	rs367543005
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)	rs875989948
NM_000048.4(ASL):c.1098dup (p.Asp367fs)
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1122dup (p.Tyr375fs)	rs869312993
NM_000048.4(ASL):c.1143+1G>T
NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter)	rs1786880122
NM_000048.4(ASL):c.1207del (p.Val403fs)	rs1554328363
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter)	rs2115764913
NM_000048.4(ASL):c.122G>A (p.Gly41Asp)	rs1562737230
NM_000048.4(ASL):c.1250+1G>A
NM_000048.4(ASL):c.1267G>C (p.Asp423His)
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter)	rs780846396
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.1311T>G (p.Tyr437Ter)	rs932494060
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)	rs869312994
NM_000048.4(ASL):c.159del (p.Leu54fs)	rs1786516110
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.221G>A (p.Trp74Ter)	rs2115694416
NM_000048.4(ASL):c.231_243del (p.Phe79fs)
NM_000048.4(ASL):c.257A>C (p.Glu86Ala)	rs869312986
NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs)
NM_000048.4(ASL):c.348+1G>A
NM_000048.4(ASL):c.377G>C (p.Arg126Pro)	rs777235530
NM_000048.4(ASL):c.387C>A (p.Cys129Ter)
NM_000048.4(ASL):c.406del (p.Leu136fs)
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.437G>C (p.Arg146Pro)	rs796051931
NM_000048.4(ASL):c.446+1G>C
NM_000048.4(ASL):c.447-2A>G
NM_000048.4(ASL):c.451_452dup (p.Asp152fs)	rs1786667696
NM_000048.4(ASL):c.461T>C (p.Leu154Pro)	rs869312988
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)	rs1180650883
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer)	rs796051932
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)	rs1786675239
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	rs111407265
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup)	rs869312989
NM_000048.4(ASL):c.58del (p.Ile20fs)
NM_000048.4(ASL):c.602+1G>T	rs398123127
NM_000048.4(ASL):c.602+2T>C
NM_000048.4(ASL):c.603-1G>C	rs1584028936
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.617G>T (p.Gly206Val)
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.656-1G>A
NM_000048.4(ASL):c.691G>C (p.Asp231His)
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)	rs761268464
NM_000048.4(ASL):c.718+5G>A	rs869312990
NM_000048.4(ASL):c.719-1G>C	rs369828060
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.762C>A (p.Ser254Arg)	rs869312991
NM_000048.4(ASL):c.765dup (p.Met256fs)	rs1562742141
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.889C>T (p.Arg297Trp)	rs869312992
NM_000048.4(ASL):c.94_100del (p.Arg32fs)	rs1554326263
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000048.4(ASL):c.976C>T (p.Gln326Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.