ClinVar Miner

List of variants reported as pathogenic for Sulfite oxidase deficiency by Invitae

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys) rs760901724 0.00002
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) rs747461754 0.00002
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158 0.00002
NM_001032386.2(SUOX):c.228+1G>A rs773655286 0.00002
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His) rs776690106 0.00001
NM_001032386.2(SUOX):c.142_145dup (p.Asn49delinsArgTer) rs780603746 0.00001
NC_000012.11:g.(?_56396006)_(56396524_?)del
NM_001032386.2(SUOX):c.1049_1052del (p.Ala349_Tyr350insTer)
NM_001032386.2(SUOX):c.1071del (p.Pro358fs)
NM_001032386.2(SUOX):c.1109del (p.Pro370fs)
NM_001032386.2(SUOX):c.1121del (p.Gly374fs)
NM_001032386.2(SUOX):c.115C>T (p.Gln39Ter) rs1175117475
NM_001032386.2(SUOX):c.119_126del (p.Arg40fs)
NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)
NM_001032386.2(SUOX):c.1312_1313del (p.Val438fs) rs2136513040
NM_001032386.2(SUOX):c.1312_1318del (p.Val438fs) rs770496917
NM_001032386.2(SUOX):c.1320_1321del (p.Glu442fs)
NM_001032386.2(SUOX):c.1349G>A (p.Trp450Ter) rs2136513148
NM_001032386.2(SUOX):c.1379dup (p.Asp461fs)
NM_001032386.2(SUOX):c.1406_1421del (p.Thr469fs)
NM_001032386.2(SUOX):c.1411del (p.Gln471fs)
NM_001032386.2(SUOX):c.141dup (p.Asp48Ter)
NM_001032386.2(SUOX):c.1464G>A (p.Trp488Ter)
NM_001032386.2(SUOX):c.1521_1524del (p.Cys508fs) rs1890688726
NM_001032386.2(SUOX):c.1545C>G (p.Tyr515Ter)
NM_001032386.2(SUOX):c.1552C>T (p.Gln518Ter)
NM_001032386.2(SUOX):c.1578G>A (p.Trp526Ter)
NM_001032386.2(SUOX):c.207dup (p.Tyr70fs)
NM_001032386.2(SUOX):c.215_222del (p.Asp72fs) rs2136509843
NM_001032386.2(SUOX):c.228+2_228+10del
NM_001032386.2(SUOX):c.242_243insTT (p.Ser81_Thr82insTer)
NM_001032386.2(SUOX):c.302G>A (p.Trp101Ter)
NM_001032386.2(SUOX):c.363dup (p.Pro122fs) rs1555198521
NM_001032386.2(SUOX):c.37C>T (p.Gln13Ter)
NM_001032386.2(SUOX):c.423del (p.Val142fs)
NM_001032386.2(SUOX):c.433del (p.Gln145fs)
NM_001032386.2(SUOX):c.452T>A (p.Leu151Ter)
NM_001032386.2(SUOX):c.460C>T (p.Gln154Ter)
NM_001032386.2(SUOX):c.466A>T (p.Lys156Ter)
NM_001032386.2(SUOX):c.49dup (p.Arg17fs)
NM_001032386.2(SUOX):c.544del (p.Arg182fs)
NM_001032386.2(SUOX):c.571del (p.Gln191fs)
NM_001032386.2(SUOX):c.599_600del (p.Pro200fs)
NM_001032386.2(SUOX):c.599del (p.Pro200fs)
NM_001032386.2(SUOX):c.621C>G (p.Tyr207Ter) rs144469629
NM_001032386.2(SUOX):c.719del (p.Gly240fs)
NM_001032386.2(SUOX):c.802C>T (p.Arg268Ter) rs1451449404
NM_001032386.2(SUOX):c.849G>A (p.Trp283Ter)
NM_001032386.2(SUOX):c.90C>A (p.Cys30Ter) rs2136509616
NM_001032386.2(SUOX):c.917del (p.Gly306fs) rs1460210127
NM_001032386.2(SUOX):c.98del (p.Asn33fs) rs773937413

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