List of variants reported as uncertain significance for Argininosuccinate lyase deficiency by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.*395C>T	rs140184651	0.00090
NM_000048.4(ASL):c.399G>A (p.Ser133=)	rs141584041	0.00057
NM_000048.4(ASL):c.1056G>A (p.Thr352=)	rs745476328	0.00013
NM_000048.4(ASL):c.*286T>A	rs555884175	0.00011
NM_000048.4(ASL):c.-31G>A	rs766867890	0.00011
NM_000048.4(ASL):c.1270G>A (p.Val424Met)	rs368264870	0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)	rs139410488	0.00008
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)	rs201352504	0.00006
NM_000048.4(ASL):c.-16C>T	rs372229504	0.00005
NM_000048.4(ASL):c.1263G>A (p.Ser421=)	rs542163407	0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=)	rs370260834	0.00005
NM_000048.4(ASL):c.*11A>G	rs199571661	0.00004
NM_000048.4(ASL):c.-34A>G	rs913916151	0.00004
NM_000048.4(ASL):c.656-6C>G	rs374259737	0.00004
NM_000048.4(ASL):c.748A>G (p.Met250Val)	rs374908945	0.00003
NM_000048.4(ASL):c.243G>C (p.Leu81=)	rs774204716	0.00002
NM_000048.4(ASL):c.*93C>T	rs1362861443	0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=)	rs768461888	0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)	rs886062406	0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=)	rs1397223617	0.00001
NM_000048.4(ASL):c.155C>T (p.Ala52Val)	rs886062405	0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=)	rs1361999742	0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=)	rs764072757	0.00001
NM_000048.4(ASL):c.-44+9G>A	rs558890925
NM_000048.4(ASL):c.1395G>A (p.Ter465=)	rs1339615185
NM_000048.4(ASL):c.29G>A (p.Gly10Asp)	rs1786510603
NM_000048.4(ASL):c.486G>A (p.Gln162=)	rs1786669549
NM_000048.4(ASL):c.917G>C (p.Arg306Pro)	rs755245694

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