ClinVar Miner

List of variants in gene SUOX studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NC_000012.12:g.56005531G>C
NM_000456.2(SUOX):c.-322C>T rs886049678
NM_000456.2(SUOX):c.-326A>T rs143315090
NM_001032386.2(SUOX):c.*155C>T rs530553316
NM_001032386.2(SUOX):c.*187G>T rs886049684
NM_001032386.2(SUOX):c.*26C>G rs770314090
NM_001032386.2(SUOX):c.*311A>G
NM_001032386.2(SUOX):c.*355T>C rs886049685
NM_001032386.2(SUOX):c.*369G>A
NM_001032386.2(SUOX):c.*479T>C
NM_001032386.2(SUOX):c.*47A>C
NM_001032386.2(SUOX):c.*496T>C rs569168288
NM_001032386.2(SUOX):c.-107C>T
NM_001032386.2(SUOX):c.-11+1604T>G rs534066397
NM_001032386.2(SUOX):c.-11+1613C>T rs139170103
NM_001032386.2(SUOX):c.-11+1672T>A rs886049681
NM_001032386.2(SUOX):c.-11+1723G>A rs373341778
NM_001032386.2(SUOX):c.-129A>G
NM_001032386.2(SUOX):c.-25G>C rs886049680
NM_001032386.2(SUOX):c.-32C>T rs705703
NM_001032386.2(SUOX):c.-58C>A rs886049679
NM_001032386.2(SUOX):c.-85G>A rs773650494
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) rs781081194
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) rs747461754
NM_001032386.2(SUOX):c.1247C>T (p.Ser416Phe) rs886049683
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1282G>A (p.Ala428Thr) rs553699159
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163
NM_001032386.2(SUOX):c.1306G>A (p.Glu436Lys) rs142424431
NM_001032386.2(SUOX):c.1333A>G (p.Ile445Val) rs999936687
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.1388_1389CT[1] (p.Leu464fs) rs1592831898
NM_001032386.2(SUOX):c.1527G>A (p.Lys509=)
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) rs770792767
NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln) rs754321646
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) rs121908009
NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys)
NM_001032386.2(SUOX):c.186A>T (p.Leu62Phe) rs1347179760
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771
NM_001032386.2(SUOX):c.199G>C (p.Val67Leu)
NM_001032386.2(SUOX):c.228+1G>A
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_001032386.2(SUOX):c.23T>C (p.Val8Ala) rs537720526
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) rs794729211
NM_001032386.2(SUOX):c.363dup (p.Pro122fs) rs1555198521
NM_001032386.2(SUOX):c.364C>G (p.Pro122Ala) rs886049682
NM_001032386.2(SUOX):c.50+9G>A rs368327991
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855
NM_001032386.2(SUOX):c.51-14G>A
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405
NM_001032386.2(SUOX):c.596C>T (p.Pro199Leu) rs769660984
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=)
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007
NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu)
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) rs121908008
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367
NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp) rs767916239
NM_001032386.2(SUOX):c.890G>A (p.Arg297Gln)
NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser)
NM_001032386.2(SUOX):c.931G>A (p.Glu311Lys) rs778950352
NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu) rs143457531
NM_001032386.2(SUOX):c.977C>A (p.Thr326Asn) rs540920017
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) rs540792428
NM_001032386.2(SUOX):c.98del (p.Asn33fs) rs773937413

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