ClinVar Miner

List of variants reported as likely benign for Sulfite oxidase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_001032386.2(SUOX):c.1297C>T (p.Arg433Trp) rs61733163 0.00244
NM_001032386.2(SUOX):c.968C>T (p.Ser323Leu) rs143457531 0.00073
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870 0.00049
NM_001032386.2(SUOX):c.1119G>A (p.Val373=) rs530598348 0.00022
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405 0.00017
NM_001032386.2(SUOX):c.596C>T (p.Pro199Leu) rs769660984 0.00014
NM_001032386.2(SUOX):c.50+13A>G rs749342776 0.00007
NM_001032386.2(SUOX):c.1515C>T (p.Asn505=) rs748365148 0.00006
NM_001032386.2(SUOX):c.396C>G (p.Pro132=) rs367680422 0.00006
NM_001032386.2(SUOX):c.50+9G>A rs368327991 0.00006
NM_001032386.2(SUOX):c.1083C>T (p.His361=) rs772506611 0.00005
NM_001032386.2(SUOX):c.681A>G (p.Pro227=) rs745881588 0.00005
NM_001032386.2(SUOX):c.19G>A (p.Ala7Thr) rs375363943 0.00004
NM_001032386.2(SUOX):c.1035G>A (p.Glu345=) rs138602223 0.00003
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=) rs759992645 0.00003
NM_001032386.2(SUOX):c.739C>A (p.Leu247Met) rs765859233 0.00003
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771 0.00002
NM_001032386.2(SUOX):c.229-13_229-11del rs755385213 0.00002
NM_001032386.2(SUOX):c.600T>C (p.Pro200=) rs373848904 0.00002
NM_001032386.2(SUOX):c.1005T>C (p.Pro335=) rs1273748741 0.00001
NM_001032386.2(SUOX):c.1155T>C (p.Ser385=) rs1460177280 0.00001
NM_001032386.2(SUOX):c.1320A>C (p.Ser440=) rs768861479 0.00001
NM_001032386.2(SUOX):c.150C>T (p.Ser50=) rs1890576135 0.00001
NM_001032386.2(SUOX):c.1527G>A (p.Lys509=) rs773340468 0.00001
NM_001032386.2(SUOX):c.1605C>G (p.Ala535=) rs748392635 0.00001
NM_001032386.2(SUOX):c.24G>A (p.Val8=) rs779079524 0.00001
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683 0.00001
NM_001032386.2(SUOX):c.300C>T (p.Ile100=) rs766077992 0.00001
NM_001032386.2(SUOX):c.375G>C (p.Leu125=) rs772009704 0.00001
NM_001032386.2(SUOX):c.450G>A (p.Glu150=) rs1352161967 0.00001
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855 0.00001
NM_001032386.2(SUOX):c.51-7C>T rs749480353 0.00001
NM_001032386.2(SUOX):c.684C>T (p.Asp228=) rs975895329 0.00001
NM_001032386.2(SUOX):c.1006C>T (p.Leu336=)
NM_001032386.2(SUOX):c.1014G>A (p.Arg338=)
NM_001032386.2(SUOX):c.1017C>T (p.Ala339=)
NM_001032386.2(SUOX):c.1032T>C (p.Ala344=)
NM_001032386.2(SUOX):c.1032T>G (p.Ala344=) rs2136512510
NM_001032386.2(SUOX):c.1038C>T (p.Val346=) rs2136512522
NM_001032386.2(SUOX):c.1044G>A (p.Leu348=) rs2136512532
NM_001032386.2(SUOX):c.1047A>G (p.Ala349=)
NM_001032386.2(SUOX):c.1095G>A (p.Val365=) rs2136512618
NM_001032386.2(SUOX):c.1116G>C (p.Val372=)
NM_001032386.2(SUOX):c.1134C>A (p.Val378=)
NM_001032386.2(SUOX):c.1173T>C (p.Ser391=)
NM_001032386.2(SUOX):c.1188A>G (p.Gln396=)
NM_001032386.2(SUOX):c.1218T>C (p.Ser406=)
NM_001032386.2(SUOX):c.1224C>T (p.Asp408=)
NM_001032386.2(SUOX):c.1254A>G (p.Pro418=)
NM_001032386.2(SUOX):c.1281G>A (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1290A>C (p.Thr430=)
NM_001032386.2(SUOX):c.1290A>G (p.Thr430=)
NM_001032386.2(SUOX):c.1305A>G (p.Gly435=)
NM_001032386.2(SUOX):c.1314A>G (p.Val438=)
NM_001032386.2(SUOX):c.1329G>A (p.Val443=) rs747749334
NM_001032386.2(SUOX):c.1335C>T (p.Ile445=) rs200569559
NM_001032386.2(SUOX):c.1344T>C (p.Tyr448=)
NM_001032386.2(SUOX):c.1368T>C (p.Ala456=)
NM_001032386.2(SUOX):c.1377G>A (p.Arg459=)
NM_001032386.2(SUOX):c.1407C>G (p.Thr469=)
NM_001032386.2(SUOX):c.1413G>A (p.Gln471=)
NM_001032386.2(SUOX):c.1443C>T (p.Arg481=)
NM_001032386.2(SUOX):c.1452G>A (p.Lys484=)
NM_001032386.2(SUOX):c.1461A>G (p.Ala487=)
NM_001032386.2(SUOX):c.1461A>T (p.Ala487=)
NM_001032386.2(SUOX):c.1467T>C (p.Arg489=) rs1452614397
NM_001032386.2(SUOX):c.147C>T (p.Asn49=)
NM_001032386.2(SUOX):c.1491G>C (p.Val497=)
NM_001032386.2(SUOX):c.1494A>C (p.Pro498=)
NM_001032386.2(SUOX):c.1512G>A (p.Leu504=) rs1384125840
NM_001032386.2(SUOX):c.1512G>C (p.Leu504=)
NM_001032386.2(SUOX):c.1533G>A (p.Val511=)
NM_001032386.2(SUOX):c.1533G>T (p.Val511=)
NM_001032386.2(SUOX):c.153C>T (p.Ser51=)
NM_001032386.2(SUOX):c.1548T>C (p.Asn516=)
NM_001032386.2(SUOX):c.1554G>A (p.Gln518=)
NM_001032386.2(SUOX):c.1563C>A (p.Thr521=)
NM_001032386.2(SUOX):c.1563C>T (p.Thr521=) rs572901773
NM_001032386.2(SUOX):c.1566G>A (p.Val522=)
NM_001032386.2(SUOX):c.156C>G (p.Thr52=)
NM_001032386.2(SUOX):c.1593T>G (p.Val531=)
NM_001032386.2(SUOX):c.159G>A (p.Gln53=)
NM_001032386.2(SUOX):c.1620T>C (p.His540=)
NM_001032386.2(SUOX):c.1623C>T (p.Val541=)
NM_001032386.2(SUOX):c.162A>G (p.Gly54=)
NM_001032386.2(SUOX):c.162A>T (p.Gly54=)
NM_001032386.2(SUOX):c.1632C>T (p.Ser544=) rs2136513600
NM_001032386.2(SUOX):c.216C>T (p.Asp72=)
NM_001032386.2(SUOX):c.228+12A>G
NM_001032386.2(SUOX):c.228+13A>C
NM_001032386.2(SUOX):c.228+13A>G
NM_001032386.2(SUOX):c.228+16G>A
NM_001032386.2(SUOX):c.228+9G>C
NM_001032386.2(SUOX):c.229-11C>T
NM_001032386.2(SUOX):c.229-13T>C
NM_001032386.2(SUOX):c.229-14T>C
NM_001032386.2(SUOX):c.229-15C>T rs767289380
NM_001032386.2(SUOX):c.229-16C>T
NM_001032386.2(SUOX):c.229-18C>T
NM_001032386.2(SUOX):c.229-5A>G
NM_001032386.2(SUOX):c.240G>A (p.Glu80=)
NM_001032386.2(SUOX):c.246A>C (p.Thr82=)
NM_001032386.2(SUOX):c.249C>T (p.His83=)
NM_001032386.2(SUOX):c.255C>T (p.Tyr85=)
NM_001032386.2(SUOX):c.270G>A (p.Val90=)
NM_001032386.2(SUOX):c.270G>C (p.Val90=) rs376338654
NM_001032386.2(SUOX):c.282C>G (p.Thr94=)
NM_001032386.2(SUOX):c.288T>C (p.Pro96=)
NM_001032386.2(SUOX):c.294T>C (p.Thr98=) rs1890617082
NM_001032386.2(SUOX):c.315C>A (p.Gly105=) rs1486305222
NM_001032386.2(SUOX):c.363G>A (p.Gly121=)
NM_001032386.2(SUOX):c.363G>C (p.Gly121=)
NM_001032386.2(SUOX):c.366T>C (p.Pro122=) rs911475368
NM_001032386.2(SUOX):c.369A>G (p.Ser123=)
NM_001032386.2(SUOX):c.379C>T (p.Leu127=)
NM_001032386.2(SUOX):c.393T>G (p.Gly131=)
NM_001032386.2(SUOX):c.396C>T (p.Pro132=)
NM_001032386.2(SUOX):c.397C>T (p.Leu133=)
NM_001032386.2(SUOX):c.39A>G (p.Gln13=)
NM_001032386.2(SUOX):c.414C>T (p.Ala138=)
NM_001032386.2(SUOX):c.417C>A (p.Leu139=)
NM_001032386.2(SUOX):c.417C>G (p.Leu139=)
NM_001032386.2(SUOX):c.42G>A (p.Gln14=)
NM_001032386.2(SUOX):c.441T>C (p.His147=) rs1890625752
NM_001032386.2(SUOX):c.456G>A (p.Leu152=)
NM_001032386.2(SUOX):c.478C>T (p.Leu160=)
NM_001032386.2(SUOX):c.492C>T (p.Asp164=)
NM_001032386.2(SUOX):c.50+15C>T
NM_001032386.2(SUOX):c.50+18A>G
NM_001032386.2(SUOX):c.50+20G>C rs2136509158
NM_001032386.2(SUOX):c.50+9G>T rs368327991
NM_001032386.2(SUOX):c.501C>T (p.Ala167=)
NM_001032386.2(SUOX):c.507C>A (p.Thr169=)
NM_001032386.2(SUOX):c.507C>G (p.Thr169=)
NM_001032386.2(SUOX):c.51-14G>C
NM_001032386.2(SUOX):c.51-15C>A
NM_001032386.2(SUOX):c.51-15C>T
NM_001032386.2(SUOX):c.51-16C>T rs1890570209
NM_001032386.2(SUOX):c.51-17A>G
NM_001032386.2(SUOX):c.552A>G (p.Pro184=) rs2136511657
NM_001032386.2(SUOX):c.556C>T (p.Leu186=)
NM_001032386.2(SUOX):c.564C>A (p.Val188=)
NM_001032386.2(SUOX):c.567C>T (p.Asn189=)
NM_001032386.2(SUOX):c.576G>A (p.Arg192=)
NM_001032386.2(SUOX):c.597C>T (p.Pro199=)
NM_001032386.2(SUOX):c.627A>G (p.Thr209=) rs2136511803
NM_001032386.2(SUOX):c.642C>T (p.Phe214=)
NM_001032386.2(SUOX):c.651G>A (p.Arg217=)
NM_001032386.2(SUOX):c.658C>T (p.Leu220=)
NM_001032386.2(SUOX):c.660G>C (p.Leu220=)
NM_001032386.2(SUOX):c.672C>T (p.Asn224=)
NM_001032386.2(SUOX):c.693C>T (p.Arg231=)
NM_001032386.2(SUOX):c.699C>T (p.His233=) rs572066838
NM_001032386.2(SUOX):c.711A>C (p.Ala237=)
NM_001032386.2(SUOX):c.72G>A (p.Arg24=)
NM_001032386.2(SUOX):c.738C>T (p.Ser246=)
NM_001032386.2(SUOX):c.739C>T (p.Leu247=)
NM_001032386.2(SUOX):c.748T>C (p.Leu250=)
NM_001032386.2(SUOX):c.768C>T (p.Tyr256=)
NM_001032386.2(SUOX):c.777A>C (p.Thr259=)
NM_001032386.2(SUOX):c.777A>G (p.Thr259=)
NM_001032386.2(SUOX):c.786G>A (p.Leu262=)
NM_001032386.2(SUOX):c.795C>G (p.Ala265=)
NM_001032386.2(SUOX):c.795C>T (p.Ala265=)
NM_001032386.2(SUOX):c.819T>C (p.Thr273=)
NM_001032386.2(SUOX):c.81T>C (p.Ile27=)
NM_001032386.2(SUOX):c.870T>C (p.Thr290=)
NM_001032386.2(SUOX):c.87C>G (p.Ala29=)
NM_001032386.2(SUOX):c.87C>T (p.Ala29=)
NM_001032386.2(SUOX):c.903G>A (p.Val301=)
NM_001032386.2(SUOX):c.903G>C (p.Val301=)
NM_001032386.2(SUOX):c.945C>T (p.His315=)
NM_001032386.2(SUOX):c.948C>G (p.Val316=)
NM_001032386.2(SUOX):c.951C>T (p.Cys317=)
NM_001032386.2(SUOX):c.972C>T (p.Asp324=)

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