ClinVar Miner

List of variants reported as likely pathogenic for Argininosuccinate lyase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) rs796051933
NM_000048.4(ASL):c.1062+1G>T rs1554327825
NM_000048.4(ASL):c.1105del (p.Leu369fs) rs1554328206
NM_000048.4(ASL):c.111_133del (p.Asp38fs) rs1554326267
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.1249_1250+12del rs1554328381
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.13-1G>C rs1554326239
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) rs932494060
NM_000048.4(ASL):c.1325del (p.Gly442fs) rs1554328479
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) rs1554326365
NM_000048.4(ASL):c.291+1G>T rs201523601
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) rs770375565
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) rs767543051
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) rs752783461
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.446+2T>C rs1268519003
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000048.4(ASL):c.602+1G>A rs398123127
NM_000048.4(ASL):c.603-1G>C
NM_000048.4(ASL):c.631_647del (p.Val211fs) rs1554327181
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) rs1554327573
NM_000048.4(ASL):c.918+5G>A rs781331391
NM_000048.4(ASL):c.973_976del (p.Leu325fs) rs763407938

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.