ClinVar Miner

List of variants reported as uncertain significance for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.758-3C>T rs113678603 0.00045
NM_001358530.2(MOCS1):c.82A>T (p.Thr28Ser) rs202233034 0.00043
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225 0.00038
NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) rs186335243 0.00036
NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln) rs760690355 0.00032
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972 0.00027
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001358530.2(MOCS1):c.1322G>T (p.Gly441Val) rs751709940 0.00020
NM_001358530.2(MOCS1):c.4G>A (p.Ala2Thr) rs553972916 0.00019
NM_001358530.2(MOCS1):c.419C>T (p.Ala140Val) rs548898048 0.00016
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.61T>C (p.Cys21Arg) rs571518668 0.00016
NM_001358530.2(MOCS1):c.1751G>A (p.Arg584Gln) rs764926640 0.00012
NM_001358530.2(MOCS1):c.646G>A (p.Val216Met) rs201334190 0.00011
NM_001358530.2(MOCS1):c.628G>A (p.Gly210Ser) rs181091882 0.00010
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln) rs372068922 0.00009
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) rs139431867 0.00009
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) rs772101270 0.00008
NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr) rs537163552 0.00008
NM_001358530.2(MOCS1):c.451A>G (p.Ile151Val) rs760464651 0.00008
NM_001358530.2(MOCS1):c.937G>A (p.Gly313Arg) rs370710723 0.00008
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) rs200072824 0.00006
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_001358530.2(MOCS1):c.335G>A (p.Arg112Gln) rs751538238 0.00006
NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp) rs746138504 0.00006
NM_001358530.2(MOCS1):c.610C>T (p.His204Tyr) rs373030876 0.00005
NM_001358530.2(MOCS1):c.746T>A (p.Met249Lys) rs147564001 0.00005
NM_001358530.2(MOCS1):c.1372A>G (p.Asn458Asp) rs558877176 0.00004
NM_001358530.2(MOCS1):c.13C>T (p.Pro5Ser) rs1278428185 0.00004
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) rs574721812 0.00004
NM_001358530.2(MOCS1):c.176C>T (p.Ala59Val) rs542659659 0.00004
NM_001358530.2(MOCS1):c.196G>A (p.Gly66Ser) rs150364145 0.00004
NM_001358530.2(MOCS1):c.218G>A (p.Arg73Gln) rs757729598 0.00004
NM_001358530.2(MOCS1):c.575G>A (p.Arg192His) rs564888351 0.00004
NM_001358530.2(MOCS1):c.100G>C (p.Glu34Gln) rs1444302015 0.00003
NM_001358530.2(MOCS1):c.106G>A (p.Ala36Thr) rs1421717640 0.00003
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724 0.00003
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353 0.00003
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) rs766961404 0.00003
NM_001358530.2(MOCS1):c.331G>A (p.Ala111Thr) rs200517455 0.00003
NM_001358530.2(MOCS1):c.574C>T (p.Arg192Cys) rs768205504 0.00003
NM_001358530.2(MOCS1):c.5C>A (p.Ala2Glu) rs533996841 0.00003
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) rs887485143 0.00003
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) rs201036100 0.00003
NM_001358530.2(MOCS1):c.1133G>A (p.Arg378Gln) rs200653737 0.00002
NM_001358530.2(MOCS1):c.136C>T (p.Arg46Trp) rs777830465 0.00002
NM_001358530.2(MOCS1):c.1469G>A (p.Arg490Gln) rs774068685 0.00002
NM_001358530.2(MOCS1):c.268G>A (p.Glu90Lys) rs147580725 0.00002
NM_001358530.2(MOCS1):c.294A>T (p.Lys98Asn) rs373489919 0.00002
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) rs757431407 0.00002
NM_001358530.2(MOCS1):c.395G>A (p.Arg132Gln) rs887802302 0.00002
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) rs767641674 0.00002
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) rs374575232 0.00002
NM_001358530.2(MOCS1):c.619A>T (p.Ile207Phe) rs772313342 0.00002
NM_001358530.2(MOCS1):c.646-6G>A rs764778534 0.00002
NM_001358530.2(MOCS1):c.777G>C (p.Lys259Asn) rs763792241 0.00002
NM_001358530.2(MOCS1):c.1010C>T (p.Ser337Phe) rs774245261 0.00001
NM_001358530.2(MOCS1):c.1091G>A (p.Arg364Gln) rs774298259 0.00001
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro) rs532400782 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711 0.00001
NM_001358530.2(MOCS1):c.161C>T (p.Ala54Val) rs374766990 0.00001
NM_001358530.2(MOCS1):c.164C>T (p.Ala55Val) rs1045854458 0.00001
NM_001358530.2(MOCS1):c.1735G>A (p.Ala579Thr) rs1766956058 0.00001
NM_001358530.2(MOCS1):c.175G>A (p.Ala59Thr) rs770756364 0.00001
NM_001358530.2(MOCS1):c.199C>T (p.Arg67Trp) rs754441164 0.00001
NM_001358530.2(MOCS1):c.344T>C (p.Val115Ala) rs372613479 0.00001
NM_001358530.2(MOCS1):c.352G>A (p.Gly118Ser) rs150060706 0.00001
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp) rs779592342 0.00001
NM_001358530.2(MOCS1):c.368G>A (p.Arg123Gln) rs567945725 0.00001
NM_001358530.2(MOCS1):c.403G>A (p.Val135Met) rs1345203104 0.00001
NM_001358530.2(MOCS1):c.412A>G (p.Ile138Val) rs772515216 0.00001
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) rs368942024 0.00001
NM_001358530.2(MOCS1):c.452T>C (p.Ile151Thr) rs772980797 0.00001
NM_001358530.2(MOCS1):c.529A>G (p.Ile177Val) rs767025683 0.00001
NM_001358530.2(MOCS1):c.554C>T (p.Ala185Val) rs1277403704 0.00001
NM_001358530.2(MOCS1):c.583+3G>A rs775383707 0.00001
NM_001358530.2(MOCS1):c.621C>G (p.Ile207Met) rs766223142 0.00001
NM_001358530.2(MOCS1):c.631T>C (p.Tyr211His) rs369792221 0.00001
NM_001358530.2(MOCS1):c.645+6G>T rs1767487620 0.00001
NM_001358530.2(MOCS1):c.713G>T (p.Gly238Val) rs778501170 0.00001
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) rs753336008 0.00001
NM_001358530.2(MOCS1):c.730C>T (p.Arg244Cys) rs951951184 0.00001
NM_001358530.2(MOCS1):c.815G>A (p.Arg272Gln) rs368776652 0.00001
NM_001358530.2(MOCS1):c.831G>T (p.Glu277Asp) rs1767422040 0.00001
NM_001358530.2(MOCS1):c.863C>T (p.Thr288Ile) rs769378717 0.00001
NC_000006.11:g.(?_39876803)_(39902176_?)dup
NC_000006.11:g.(?_39877569)_(39902156_?)dup
NC_000006.11:g.(?_39881041)_(39902176_?)dup
NM_001358530.2(MOCS1):c.1036G>C (p.Ala346Pro) rs746533600
NM_001358530.2(MOCS1):c.1069G>T (p.Ala357Ser) rs1318933448
NM_001358530.2(MOCS1):c.1081A>G (p.Arg361Gly)
NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg) rs1767214486
NM_001358530.2(MOCS1):c.1097A>G (p.His366Arg)
NM_001358530.2(MOCS1):c.1103-19C>T
NM_001358530.2(MOCS1):c.1103-37_1103-19dup
NM_001358530.2(MOCS1):c.112G>T (p.Ala38Ser) rs532400782
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) rs149586823
NM_001358530.2(MOCS1):c.1132C>T (p.Arg378Trp) rs149586823
NM_001358530.2(MOCS1):c.1141A>G (p.Ile381Val) rs1767130999
NM_001358530.2(MOCS1):c.1150+19C>G
NM_001358530.2(MOCS1):c.1151-12C>T
NM_001358530.2(MOCS1):c.1162A>G (p.Met388Val)
NM_001358530.2(MOCS1):c.116C>T (p.Ala39Val)
NM_001358530.2(MOCS1):c.1175C>T (p.Ser392Phe) rs1404897954
NM_001358530.2(MOCS1):c.1198T>G (p.Phe400Val)
NM_001358530.2(MOCS1):c.1204T>G (p.Trp402Gly)
NM_001358530.2(MOCS1):c.123+3G>A
NM_001358530.2(MOCS1):c.123+6C>G
NM_001358530.2(MOCS1):c.1242G>T (p.Met414Ile)
NM_001358530.2(MOCS1):c.1253G>C (p.Ser418Thr)
NM_001358530.2(MOCS1):c.1256A>T (p.Gln419Leu)
NM_001358530.2(MOCS1):c.1258G>T (p.Val420Leu)
NM_001358530.2(MOCS1):c.1278A>T (p.Gly426=)
NM_001358530.2(MOCS1):c.1333T>C (p.Phe445Leu)
NM_001358530.2(MOCS1):c.133A>G (p.Arg45Gly)
NM_001358530.2(MOCS1):c.1343A>G (p.His448Arg)
NM_001358530.2(MOCS1):c.1357G>A (p.Ala453Thr)
NM_001358530.2(MOCS1):c.137G>A (p.Arg46Gln) rs752673279
NM_001358530.2(MOCS1):c.137G>C (p.Arg46Pro)
NM_001358530.2(MOCS1):c.1414C>T (p.Pro472Ser)
NM_001358530.2(MOCS1):c.1423C>A (p.Pro475Thr) rs756972656
NM_001358530.2(MOCS1):c.1460C>T (p.Ser487Leu)
NM_001358530.2(MOCS1):c.1477A>G (p.Met493Val) rs2149396227
NM_001358530.2(MOCS1):c.1507G>A (p.Glu503Lys)
NM_001358530.2(MOCS1):c.1508A>G (p.Glu503Gly)
NM_001358530.2(MOCS1):c.1510C>T (p.Arg504Trp)
NM_001358530.2(MOCS1):c.1511G>T (p.Arg504Leu)
NM_001358530.2(MOCS1):c.151C>T (p.Arg51Trp)
NM_001358530.2(MOCS1):c.152G>A (p.Arg51Gln)
NM_001358530.2(MOCS1):c.1546C>T (p.Pro516Ser)
NM_001358530.2(MOCS1):c.1547C>T (p.Pro516Leu)
NM_001358530.2(MOCS1):c.1570C>G (p.Gln524Glu)
NM_001358530.2(MOCS1):c.1589G>A (p.Gly530Glu)
NM_001358530.2(MOCS1):c.158A>G (p.His53Arg)
NM_001358530.2(MOCS1):c.1594G>T (p.Ala532Ser)
NM_001358530.2(MOCS1):c.1609C>T (p.Gln537Ter)
NM_001358530.2(MOCS1):c.163G>T (p.Ala55Ser) rs762546266
NM_001358530.2(MOCS1):c.1657C>T (p.Leu553=)
NM_001358530.2(MOCS1):c.1669G>A (p.Val557Met)
NM_001358530.2(MOCS1):c.166C>T (p.Pro56Ser) rs1768383623
NM_001358530.2(MOCS1):c.1677G>C (p.Leu559=)
NM_001358530.2(MOCS1):c.167C>T (p.Pro56Leu)
NM_001358530.2(MOCS1):c.1723G>A (p.Val575Met) rs938403965
NM_001358530.2(MOCS1):c.1745G>A (p.Arg582Gln)
NM_001358530.2(MOCS1):c.1745G>T (p.Arg582Leu)
NM_001358530.2(MOCS1):c.1750C>T (p.Arg584Trp)
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.1764G>A (p.Gly588=)
NM_001358530.2(MOCS1):c.1790C>T (p.Ala597Val)
NM_001358530.2(MOCS1):c.17_18delinsCT (p.Leu6Pro) rs2149429551
NM_001358530.2(MOCS1):c.1817A>G (p.Asp606Gly)
NM_001358530.2(MOCS1):c.1823G>A (p.Cys608Tyr)
NM_001358530.2(MOCS1):c.1852GAG[1] (p.Glu619del)
NM_001358530.2(MOCS1):c.1853A>G (p.Glu618Gly)
NM_001358530.2(MOCS1):c.1868T>C (p.Ile623Thr)
NM_001358530.2(MOCS1):c.1879GGT[3] (p.Gly628_Gln629insGly)
NM_001358530.2(MOCS1):c.1888C>T (p.Arg630Trp)
NM_001358530.2(MOCS1):c.1889G>A (p.Arg630Gln)
NM_001358530.2(MOCS1):c.1889G>C (p.Arg630Pro)
NM_001358530.2(MOCS1):c.1891G>A (p.Gly631Arg)
NM_001358530.2(MOCS1):c.1894G>A (p.Asp632Asn)
NM_001358530.2(MOCS1):c.1894dup (p.Asp632fs) rs747994218
NM_001358530.2(MOCS1):c.1904G>A (p.Arg635Gln)
NM_001358530.2(MOCS1):c.1907C>T (p.Ala636Val)
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) rs567333444
NM_001358530.2(MOCS1):c.20C>G (p.Ser7Cys) rs2149429547
NM_001358530.2(MOCS1):c.226C>G (p.Leu76Val) rs763820136
NM_001358530.2(MOCS1):c.22C>G (p.Arg8Gly)
NM_001358530.2(MOCS1):c.22C>T (p.Arg8Trp)
NM_001358530.2(MOCS1):c.238T>G (p.Cys80Gly)
NM_001358530.2(MOCS1):c.248G>A (p.Arg83Lys)
NM_001358530.2(MOCS1):c.250+5G>A
NM_001358530.2(MOCS1):c.250T>C (p.Cys84Arg) rs935994999
NM_001358530.2(MOCS1):c.251-19C>G
NM_001358530.2(MOCS1):c.263T>G (p.Met88Arg)
NM_001358530.2(MOCS1):c.26T>G (p.Met9Arg) rs2149429524
NM_001358530.2(MOCS1):c.277G>A (p.Val93Ile)
NM_001358530.2(MOCS1):c.277G>T (p.Val93Phe)
NM_001358530.2(MOCS1):c.278T>A (p.Val93Asp) rs2149419575
NM_001358530.2(MOCS1):c.27G>A (p.Met9Ile) rs1173913012
NM_001358530.2(MOCS1):c.281C>T (p.Pro94Leu) rs769807132
NM_001358530.2(MOCS1):c.293A>T (p.Lys98Ile)
NM_001358530.2(MOCS1):c.303G>A (p.Leu101=)
NM_001358530.2(MOCS1):c.331G>T (p.Ala111Ser)
NM_001358530.2(MOCS1):c.336G>C (p.Arg112=)
NM_001358530.2(MOCS1):c.34C>T (p.Arg12Trp) rs1425959654
NM_001358530.2(MOCS1):c.350A>T (p.Glu117Val)
NM_001358530.2(MOCS1):c.358G>A (p.Asp120Asn) rs368420298
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.359A>G (p.Asp120Gly) rs773683592
NM_001358530.2(MOCS1):c.360C>A (p.Asp120Glu)
NM_001358530.2(MOCS1):c.36G>C (p.Arg12=)
NM_001358530.2(MOCS1):c.379G>A (p.Gly127Arg) rs1321268099
NM_001358530.2(MOCS1):c.37C>T (p.Leu13Phe) rs2149429501
NM_001358530.2(MOCS1):c.386C>G (p.Pro129Arg) rs777815200
NM_001358530.2(MOCS1):c.391A>C (p.Ile131Leu)
NM_001358530.2(MOCS1):c.391A>T (p.Ile131Phe) rs528340821
NM_001358530.2(MOCS1):c.3G>A (p.Met1Ile) rs2149429593
NM_001358530.2(MOCS1):c.418+6T>C rs780678363
NM_001358530.2(MOCS1):c.419-3C>A
NM_001358530.2(MOCS1):c.432G>A (p.Arg144=)
NM_001358530.2(MOCS1):c.439G>A (p.Gly147Arg) rs1582817556
NM_001358530.2(MOCS1):c.455G>T (p.Gly152Val) rs116035280
NM_001358530.2(MOCS1):c.485G>T (p.Arg162Leu) rs374575232
NM_001358530.2(MOCS1):c.518G>C (p.Ser173Thr) rs1767645451
NM_001358530.2(MOCS1):c.51C>T (p.Ser17=)
NM_001358530.2(MOCS1):c.524T>A (p.Ile175Asn)
NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met) rs1767642521
NM_001358530.2(MOCS1):c.558G>C (p.Lys186Asn) rs1767641412
NM_001358530.2(MOCS1):c.564G>T (p.Glu188Asp) rs780263625
NM_001358530.2(MOCS1):c.583+5G>A
NM_001358530.2(MOCS1):c.583+6C>A rs111409017
NM_001358530.2(MOCS1):c.594G>A (p.Lys198=)
NM_001358530.2(MOCS1):c.595G>A (p.Val199Ile)
NM_001358530.2(MOCS1):c.596T>A (p.Val199Asp) rs2149404743
NM_001358530.2(MOCS1):c.607A>G (p.Ile203Val)
NM_001358530.2(MOCS1):c.60C>A (p.Ser20Arg) rs1208715055
NM_001358530.2(MOCS1):c.614A>G (p.Lys205Arg) rs1468443174
NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr) rs1767492682
NM_001358530.2(MOCS1):c.61T>A (p.Cys21Ser) rs571518668
NM_001358530.2(MOCS1):c.622G>A (p.Glu208Lys)
NM_001358530.2(MOCS1):c.632A>G (p.Tyr211Cys) rs1242005289
NM_001358530.2(MOCS1):c.646G>T (p.Val216Leu)
NM_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr) rs1157838581
NM_001358530.2(MOCS1):c.64_93dup (p.Ser22_Cys31dup) rs2149429441
NM_001358530.2(MOCS1):c.656T>C (p.Val219Ala)
NM_001358530.2(MOCS1):c.690G>A (p.Leu230=)
NM_001358530.2(MOCS1):c.722T>G (p.Leu241Arg) rs1767453228
NM_001358530.2(MOCS1):c.731G>A (p.Arg244His)
NM_001358530.2(MOCS1):c.740A>T (p.Glu247Val) rs2149404000
NM_001358530.2(MOCS1):c.748C>G (p.Pro250Ala)
NM_001358530.2(MOCS1):c.757+4A>C rs1176487418
NM_001358530.2(MOCS1):c.757+5G>T
NM_001358530.2(MOCS1):c.762C>G (p.Asn254Lys)
NM_001358530.2(MOCS1):c.763A>C (p.Lys255Gln) rs2149403668
NM_001358530.2(MOCS1):c.777G>T (p.Lys259Asn) rs763792241
NM_001358530.2(MOCS1):c.77C>A (p.Pro26Gln) rs749631517
NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) rs749631517
NM_001358530.2(MOCS1):c.783G>C (p.Met261Ile) rs2149403637
NM_001358530.2(MOCS1):c.791A>G (p.Tyr264Cys)
NM_001358530.2(MOCS1):c.793A>G (p.Lys265Glu) rs1269381010
NM_001358530.2(MOCS1):c.7G>A (p.Ala3Thr)
NM_001358530.2(MOCS1):c.7G>T (p.Ala3Ser) rs371890945
NM_001358530.2(MOCS1):c.823T>A (p.Trp275Arg)
NM_001358530.2(MOCS1):c.823T>C (p.Trp275Arg) rs779576648
NM_001358530.2(MOCS1):c.825G>T (p.Trp275Cys) rs2149403578
NM_001358530.2(MOCS1):c.829G>A (p.Glu277Lys) rs1767422241
NM_001358530.2(MOCS1):c.853G>C (p.Glu285Gln) rs140243105
NM_001358530.2(MOCS1):c.861C>A (p.Ser287Arg)
NM_001358530.2(MOCS1):c.896G>T (p.Gly299Val) rs2149402956
NM_001358530.2(MOCS1):c.8C>T (p.Ala3Val)
NM_001358530.2(MOCS1):c.920T>C (p.Met307Thr) rs1172609934
NM_001358530.2(MOCS1):c.926A>T (p.Glu309Val) rs758233425
NM_001358530.2(MOCS1):c.929A>C (p.His310Pro)
NM_001358530.2(MOCS1):c.945C>T (p.Cys315=)
NM_001358530.2(MOCS1):c.950G>A (p.Arg317His)
NM_001358530.2(MOCS1):c.950G>T (p.Arg317Leu) rs756158164
NM_001358530.2(MOCS1):c.962C>T (p.Thr321Ile) rs1304465015
NM_001358530.2(MOCS1):c.965C>G (p.Ala322Gly)
NM_001358530.2(MOCS1):c.969T>C (p.Asp323=)
NM_001358530.2(MOCS1):c.981+6C>T rs1249720881
NM_001358530.2(MOCS1):c.982-3T>C rs1248247549
NM_001358530.2(MOCS1):c.986G>C (p.Cys329Ser) rs2149400459
NM_001358530.2(MOCS1):c.997A>T (p.Asn333Tyr) rs2149400451

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