ClinVar Miner

List of variants reported as pathogenic for argininosuccinic aciduria by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 49
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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.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.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.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 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.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 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.349-1G>A rs1395478201 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.467C>T (p.Pro156Leu) rs769017508 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.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1045_1062+7del rs1329070853
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)
NM_000048.4(ASL):c.1143+1G>T
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.348+1G>A
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
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.602+1G>T rs398123127
NM_000048.4(ASL):c.603-1G>C rs1584028936
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.706C>T (p.Arg236Trp) rs761268464
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.765dup (p.Met256fs) rs1562742141
NM_000048.4(ASL):c.834-1G>A

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