ClinVar Miner

List of variants reported as likely pathogenic for Argininosuccinate lyase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000048.4(ASL):c.688A>G (p.Met230Val) rs143957662 0.00006
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.1267G>A (p.Asp423Asn) rs778321544 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.1193C>A (p.Ala398Asp) rs770167670 0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) rs752100894 0.00001
NM_000048.4(ASL):c.349-1G>A rs1395478201 0.00001
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) rs201962738 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.446C>T (p.Ala149Val) rs777288665 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 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.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)
NM_000048.4(ASL):c.1143+1G>T
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.175G>T (p.Glu59Ter)
NM_000048.4(ASL):c.371G>A (p.Trp124Ter) rs1786558070
NM_000048.4(ASL):c.447-2A>G
NM_000048.4(ASL):c.502del (p.Arg168fs)
NM_000048.4(ASL):c.525_536del (p.Ser175_Ala179delinsArg)
NM_000048.4(ASL):c.599G>T (p.Gly200Val) rs2115726233
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)
NM_000048.4(ASL):c.749T>A (p.Met250Lys)
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) rs869312991
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) rs869312992
NM_000048.4(ASL):c.919del (p.Cys307fs)
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)
NM_000048.4(ASL):c.978+1G>A

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