List of variants reported as pathogenic for argininosuccinic aciduria by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.532G>A (p.Val178Met)	rs28941473	0.00034
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00015
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)	rs369879957	0.00004
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000048.4(ASL):c.447-1G>A	rs778254333	0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)	rs752397242	0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	rs761651320	0.00002
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001

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