List of variants reported as likely pathogenic for Argininosuccinate lyase deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.1062+5G>C	rs779486497	0.00001
NM_000048.4(ASL):c.502C>T (p.Arg168Cys)	rs766832061	0.00001
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)	rs28940287
NM_000048.4(ASL):c.1143+1del	rs2485028623
NM_000048.4(ASL):c.754C>T (p.His252Tyr)

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