ClinVar Miner

List of variants reported as benign for argininosuccinic aciduria

Included ClinVar conditions (1):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.656-102T>C rs313828 0.76440
NM_000048.4(ASL):c.655+124A>G rs313829 0.71689
NM_000048.4(ASL):c.978+63C>T rs2460432 0.65407
NM_000048.4(ASL):c.12+105C>T rs1183245 0.60874
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878 0.00717
NM_000048.4(ASL):c.1062+16C>G rs192554187 0.00714
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.183C>T (p.Asp61=) rs73374672 0.00282
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.927G>T (p.Gly309=) rs151294789 0.00185
NM_000048.4(ASL):c.309G>A (p.Thr103=) rs142448820 0.00129
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000048.4(ASL):c.354C>T (p.Val118=) rs116121482 0.00014
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112 0.00011
NM_000048.4(ASL):c.1263G>A (p.Ser421=) rs542163407 0.00005
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000048.4(ASL):c.1062+17del rs750441507
NM_000048.4(ASL):c.1062+17dup
NM_000048.4(ASL):c.1063-3del
NM_000048.4(ASL):c.1063-57G>C rs1167406
NM_000048.4(ASL):c.348+13dup rs781287410
NM_000048.4(ASL):c.348+22del
NM_000048.4(ASL):c.602+22del
NM_000048.4(ASL):c.656-3dup rs778811159
NM_000048.4(ASL):c.656-5C>A rs201814807
NM_000048.4(ASL):c.918+17dup
NM_000048.4(ASL):c.978+15del rs535066653
NM_000048.4(ASL):c.978+15dup rs535066653
NM_000048.4(ASL):c.978+17G>A rs548786563
NM_000048.4(ASL):c.978+30C>T rs160647

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