List of variants studied for Argininosuccinate lyase deficiency by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 96

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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.299T>C (p.Ile100Thr)	rs202142867	0.00022
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.571C>T (p.Arg191Trp)	rs143508372	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.1367G>A (p.Arg456Gln)	rs767271619	0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His)	rs150244667	0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	rs1428029508	0.00003
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	rs752783461	0.00002
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.638G>A (p.Arg213Gln)	rs1449589636	0.00002
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	rs764546937	0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	rs746120802	0.00001
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	rs770167670	0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	rs757109353	0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	rs771012029	0.00001
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	rs752100894	0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	rs374304304	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	rs138310841	0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	rs561367199	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.446+2T>C	rs1268519003	0.00001
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	rs769017508	0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	rs759952363	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	rs756363516	0.00001
NM_000048.4(ASL):c.602+1G>A	rs398123127	0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	rs764602422	0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	rs754995756	0.00001
NM_000048.4(ASL):c.978G>C (p.Gln326His)	rs764356037	0.00001
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)	rs796051933
NM_000048.4(ASL):c.1045_1062+7del	rs1329070853
NM_000048.4(ASL):c.1062+5G>C
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)
NM_000048.4(ASL):c.111_133del (p.Asp38fs)	rs1554326267
NM_000048.4(ASL):c.1143+1G>C
NM_000048.4(ASL):c.1143+1G>T
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	rs773071023
NM_000048.4(ASL):c.1331C>T (p.Ala444Val)
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.206A>G (p.Lys69Arg)
NM_000048.4(ASL):c.207G>A (p.Lys69=)	rs886043007
NM_000048.4(ASL):c.208-1G>T
NM_000048.4(ASL):c.226C>T (p.Gln76Ter)
NM_000048.4(ASL):c.291+1G>T	rs201523601
NM_000048.4(ASL):c.29del (p.Gly10fs)
NM_000048.4(ASL):c.305dup (p.Thr103fs)
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
NM_000048.4(ASL):c.329dup (p.Arg111fs)
NM_000048.4(ASL):c.348+1G>A
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	rs796051931
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)	rs1180650883
NM_000048.4(ASL):c.525-1G>A
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.569_573dup (p.Lys192fs)
NM_000048.4(ASL):c.602+1G>T	rs398123127
NM_000048.4(ASL):c.603-1G>C	rs1584028936
NM_000048.4(ASL):c.603-2A>G
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	rs796051925
NM_000048.4(ASL):c.617G>T (p.Gly206Val)
NM_000048.4(ASL):c.623C>G (p.Pro208Arg)
NM_000048.4(ASL):c.629del (p.Gly210fs)
NM_000048.4(ASL):c.631_647del (p.Val211fs)	rs1554327181
NM_000048.4(ASL):c.656-1G>A
NM_000048.4(ASL):c.656-2A>T
NM_000048.4(ASL):c.672dup (p.Ile225fs)
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)	rs761268464
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	rs1554327573
NM_000048.4(ASL):c.765dup (p.Met256fs)	rs1562742141
NM_000048.4(ASL):c.778C>T (p.Leu260Phe)
NM_000048.4(ASL):c.803del (p.Phe268fs)
NM_000048.4(ASL):c.834-1G>A
NM_000048.4(ASL):c.870del (p.Asp291fs)
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)	rs769506424
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)

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