List of variants reported as pathogenic for Argininosuccinate lyase deficiency by Natera, Inc.

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

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
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.337C>T (p.Arg113Trp)	rs767543051	0.00008
NM_000048.4(ASL):c.446+1G>A	rs142637046	0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	rs759396688	0.00006
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)	rs398123126	0.00005
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	rs373697663	0.00004
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.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)	rs199938613	0.00002
NM_000048.4(ASL):c.447-1G>A	rs778254333	0.00002
NM_000048.4(ASL):c.524+2T>G	rs869312976	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.1255_1256del (p.Leu419fs)	rs757109353	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.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)	rs1786675239
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	rs111407265
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)	rs761268464
NM_000048.4(ASL):c.973_976del (p.Leu325fs)	rs763407938

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