List of variants reported as likely pathogenic for argininosuccinic aciduria

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

Total variants: 158

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	rs202142867	0.00022
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.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.338G>A (p.Arg113Gln)	rs752783461	0.00002
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.1154G>A (p.Arg385His)	rs746120802	0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	rs771012029	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.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.376C>T (p.Arg126Trp)	rs201962738	0.00001
NM_000048.4(ASL):c.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	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.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.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.1062+1G>T	rs1554327825
NM_000048.4(ASL):c.1062+5G>C
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)
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)
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu)	rs200853731
NM_000048.4(ASL):c.1143+1G>A
NM_000048.4(ASL):c.1143+1G>C
NM_000048.4(ASL):c.1143+1del
NM_000048.4(ASL):c.1143+2T>G	rs2115760718
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)
NM_000048.4(ASL):c.117del (p.Gln40fs)
NM_000048.4(ASL):c.118_119del (p.Gln40fs)
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
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.1325del (p.Gly442fs)	rs1554328479
NM_000048.4(ASL):c.1331C>T (p.Ala444Val)
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter)	rs1786894242
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)	rs869312994
NM_000048.4(ASL):c.143del (p.Gly48fs)
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.176A>T (p.Glu59Val)
NM_000048.4(ASL):c.206A>G (p.Lys69Arg)
NM_000048.4(ASL):c.208-1G>A
NM_000048.4(ASL):c.208-1G>T
NM_000048.4(ASL):c.226C>T (p.Gln76Ter)
NM_000048.4(ASL):c.243_244del (p.Asn82fs)
NM_000048.4(ASL):c.256G>T (p.Glu86Ter)	rs1786532924
NM_000048.4(ASL):c.280C>A (p.Arg94Ser)
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)	rs1554326365
NM_000048.4(ASL):c.291+1G>T	rs201523601
NM_000048.4(ASL):c.291+2T>C
NM_000048.4(ASL):c.299T>A (p.Ile100Asn)	rs202142867
NM_000048.4(ASL):c.29del (p.Gly10fs)
NM_000048.4(ASL):c.302G>A (p.Gly101Asp)
NM_000048.4(ASL):c.305dup (p.Thr103fs)
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
NM_000048.4(ASL):c.329dup (p.Arg111fs)
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)
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.379C>T (p.Gln127Ter)	rs1786558577
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs)
NM_000048.4(ASL):c.426del (p.Met143fs)	rs2115700686
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.454G>A (p.Asp152Asn)	rs780023054
NM_000048.4(ASL):c.467C>A (p.Pro156Gln)
NM_000048.4(ASL):c.478del (p.His160fs)
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)
NM_000048.4(ASL):c.502C>T (p.Arg168Cys)	rs766832061
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
NM_000048.4(ASL):c.544C>G (p.Arg182Gly)
NM_000048.4(ASL):c.545G>C (p.Arg182Pro)
NM_000048.4(ASL):c.569_573dup (p.Lys192fs)
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)	rs143508372
NM_000048.4(ASL):c.57del (p.Ile20fs)
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
NM_000048.4(ASL):c.603-2A>G
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.616G>A (p.Gly206Ser)
NM_000048.4(ASL):c.617G>A (p.Gly206Asp)
NM_000048.4(ASL):c.623C>G (p.Pro208Arg)
NM_000048.4(ASL):c.629del (p.Gly210fs)
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.638G>C (p.Arg213Pro)
NM_000048.4(ASL):c.656-2A>C
NM_000048.4(ASL):c.656-2A>T
NM_000048.4(ASL):c.672dup (p.Ile225fs)
NM_000048.4(ASL):c.674T>C (p.Ile225Thr)
NM_000048.4(ASL):c.675C>G (p.Ile225Met)	rs1554327265
NM_000048.4(ASL):c.689T>C (p.Met230Thr)
NM_000048.4(ASL):c.690G>A (p.Met230Ile)	rs2115733193
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs)
NM_000048.4(ASL):c.711C>G (p.Asp237Glu)
NM_000048.4(ASL):c.718+1G>A
NM_000048.4(ASL):c.718+5G>A	rs869312990
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)
NM_000048.4(ASL):c.721G>T (p.Glu241Ter)	rs1786746301
NM_000048.4(ASL):c.723G>C (p.Glu241Asp)
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.736del (p.Ala246fs)
NM_000048.4(ASL):c.778C>T (p.Leu260Phe)
NM_000048.4(ASL):c.803del (p.Phe268fs)
NM_000048.4(ASL):c.814C>T (p.Gln272Ter)	rs1786750679
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.857A>C (p.Gln286Pro)
NM_000048.4(ASL):c.870del (p.Asp291fs)
NM_000048.4(ASL):c.918_919-31del	rs2115742136
NM_000048.4(ASL):c.919-1G>A	rs1786770612
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)	rs769506424
NM_000048.4(ASL):c.932T>C (p.Leu311Pro)
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
NM_000048.4(ASL):c.978+1G>A
NM_000048.4(ASL):c.999_1000del (p.Phe333fs)

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