ClinVar Miner

List of variants reported as uncertain significance for Sulfite oxidase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001032386.2(SUOX):c.-11+1723G>A rs373341778 0.00138
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001032386.2(SUOX):c.*155C>T rs530553316 0.00053
NM_001032386.2(SUOX):c.*479T>C rs150059569 0.00047
NM_001032386.2(SUOX):c.-85G>A rs773650494 0.00035
NM_001032386.2(SUOX):c.*496T>C rs569168288 0.00019
NM_001032386.2(SUOX):c.51-14G>A rs141432255 0.00017
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405 0.00017
NM_001032386.2(SUOX):c.-58C>A rs886049679 0.00016
NM_001032386.2(SUOX):c.983C>T (p.Thr328Ile) rs540792428 0.00012
NM_001032386.2(SUOX):c.*369G>A rs569422582 0.00006
NM_001032386.2(SUOX):c.50+9G>A rs368327991 0.00006
NM_001032386.2(SUOX):c.-11+1672T>A rs886049681 0.00005
NM_001032386.2(SUOX):c.1282G>A (p.Ala428Thr) rs553699159 0.00004
NM_001032386.2(SUOX):c.822G>C (p.Gln274His) rs146481076 0.00004
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=) rs759992645 0.00003
NM_000456.2(SUOX):c.-322C>T rs886049678 0.00002
NM_001032386.2(SUOX):c.*47A>C rs767182198 0.00002
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771 0.00002
NM_001032386.2(SUOX):c.*26C>G rs770314090 0.00001
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683 0.00001
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855 0.00001
NM_001032386.2(SUOX):c.889C>T (p.Arg297Trp) rs767916239 0.00001
NM_001032386.2(SUOX):c.89G>C (p.Cys30Ser) rs1419540521 0.00001
NM_000456.2(SUOX):c.*504G>C rs533950144
NM_001032386.2(SUOX):c.*187G>T rs886049684
NM_001032386.2(SUOX):c.*311A>G rs1890704474
NM_001032386.2(SUOX):c.*355T>C rs886049685
NM_001032386.2(SUOX):c.-129A>G rs1352495624
NM_001032386.2(SUOX):c.-25G>C rs886049680
NM_001032386.2(SUOX):c.1247C>T (p.Ser416Phe) rs886049683
NM_001032386.2(SUOX):c.1586G>A (p.Arg529Gln) rs754321646
NM_001032386.2(SUOX):c.1612C>T (p.Arg538Cys) rs758495258
NM_001032386.2(SUOX):c.23T>C (p.Val8Ala) rs537720526
NM_001032386.2(SUOX):c.364C>G (p.Pro122Ala) rs886049682
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=) rs144469629
NM_001032386.2(SUOX):c.713C>T (p.Pro238Leu) rs557184203

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