ClinVar Miner

List of variants reported as uncertain significance for Argininosuccinate lyase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.291+4C>T rs368188924 0.00046
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) rs372774556 0.00006
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.938C>A (p.Thr313Asn) rs1410031530 0.00003
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys) rs761034915 0.00002
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) rs148669165 0.00002
NM_000048.4(ASL):c.326C>T (p.Thr109Met) rs146123574 0.00002
NM_000048.4(ASL):c.77C>T (p.Ala26Val) rs761046404 0.00002
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) rs771476376 0.00001
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr) rs757216794 0.00001
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr) rs1415535789 0.00001
NM_000048.4(ASL):c.1319T>C (p.Leu440Pro) rs752915686 0.00001
NM_000048.4(ASL):c.209T>C (p.Val70Ala) rs1027739421 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.76G>A (p.Ala26Thr) rs775839623 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.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.1055C>T (p.Thr352Met)
NM_000048.4(ASL):c.1063-14_1063-5del
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys) rs372785881
NM_000048.4(ASL):c.1143+6T>A rs2115760756
NM_000048.4(ASL):c.115G>T (p.Val39Phe)
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.131C>G (p.Ala44Gly) rs2115691157
NM_000048.4(ASL):c.1334G>A (p.Arg445His)
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu)
NM_000048.4(ASL):c.1382C>T (p.Ala461Val)
NM_000048.4(ASL):c.145C>A (p.Leu49Met)
NM_000048.4(ASL):c.229G>C (p.Gly77Arg)
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.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.404T>G (p.Leu135Arg) rs1786559599
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.490G>C (p.Ala164Pro)
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.530_532dup (p.Ala177_Val178insAla)
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.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.736G>A (p.Ala246Thr)
NM_000048.4(ASL):c.745T>C (p.Cys249Arg)
NM_000048.4(ASL):c.746G>T (p.Cys249Phe) rs2115739143
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.867C>A (p.Asn289Lys)
NM_000048.4(ASL):c.871G>A (p.Asp291Asn)
NM_000048.4(ASL):c.907G>A (p.Val303Met)
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) rs1168345442
NM_000048.4(ASL):c.94C>T (p.Arg32Trp)
NM_000048.4(ASL):c.978+5G>A
NM_000048.4(ASL):c.979-3C>T

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