ClinVar Miner

List of variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.124-216A>G rs3008822 0.50249
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_001358530.2(MOCS1):c.*824C>G rs11968491 0.06790
NM_001358530.2(MOCS1):c.583+10T>A rs34757428 0.06768
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875 0.06302
NM_001358530.2(MOCS1):c.*451C>T rs41273136 0.06093
NM_001358530.2(MOCS1):c.*1334A>C rs3749999 0.05702
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585 0.05422
NM_001358530.2(MOCS1):c.*987C>T rs7758412 0.04471
NM_001358530.2(MOCS1):c.*378G>A rs11968529 0.04433
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138 0.03810
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769 0.03639
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_001358530.2(MOCS1):c.583+6C>T rs111409017 0.03125
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375 0.02544
NM_001358530.2(MOCS1):c.*734C>G rs1063171 0.02273
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142 0.02099
NM_001358530.2(MOCS1):c.*1909A>G rs73732316 0.02000
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001358530.2(MOCS1):c.*1136A>C rs60326448 0.01180
NM_001358530.2(MOCS1):c.*1002C>T rs115706925 0.01175
NM_001358530.2(MOCS1):c.*826A>C rs56355907 0.00844
NM_001358530.2(MOCS1):c.*578C>T rs147395035 0.00739
NM_001358530.2(MOCS1):c.*1405G>C rs3749998 0.00676
NM_001358530.2(MOCS1):c.*1113T>G rs3828937 0.00672
NM_001358530.2(MOCS1):c.*1911C>A rs188855912 0.00654
NM_001358530.2(MOCS1):c.*120C>T rs188611081 0.00377
NM_001358530.2(MOCS1):c.*990T>C rs192141515 0.00355
NM_001358530.2(MOCS1):c.*1424C>G rs151159237 0.00270
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_001358530.2(MOCS1):c.*1445C>T rs575187638 0.00223
NM_001358530.2(MOCS1):c.*477C>T rs184315150 0.00200
NM_001358530.2(MOCS1):c.*135T>G rs370974142 0.00198
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_001358530.2(MOCS1):c.*523T>C rs11963579 0.00151
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596 0.00142
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) rs116035280 0.00128
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.*762G>A rs115429345 0.00058
NM_001358530.2(MOCS1):c.124-167C>T rs189991561 0.00058
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_001358530.2(MOCS1):c.*1003G>A rs374341048 0.00055
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_001358530.2(MOCS1):c.*659A>G rs142815887 0.00044
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001358530.2(MOCS1):c.*84A>G rs752606397 0.00042
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001358530.2(MOCS1):c.*400C>T rs764443066 0.00026
NM_001358530.2(MOCS1):c.*1857G>A rs193217053 0.00025
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001358530.2(MOCS1):c.*1808G>A rs752267060 0.00022
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.*633C>T rs757366588 0.00015
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001358530.2(MOCS1):c.*1954G>A rs189856931 0.00011
NM_001358530.2(MOCS1):c.*756A>C rs745583636 0.00011
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001358530.2(MOCS1):c.*1628C>T rs766403739 0.00009
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.*888C>T rs201675490 0.00008
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) rs772101270 0.00008
NM_001358530.2(MOCS1):c.*326C>T rs554733904 0.00007
NM_001358530.2(MOCS1):c.*1067A>C rs754337805 0.00006
NM_001358530.2(MOCS1):c.*142C>G rs751006327 0.00006
NM_001358530.2(MOCS1):c.*1832G>A rs757660047 0.00006
NM_001358530.2(MOCS1):c.*1884G>A rs764874736 0.00005
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001358530.2(MOCS1):c.*1307A>G rs1038982726 0.00004
NM_001358530.2(MOCS1):c.*327G>A rs112129067 0.00004
NM_001358530.2(MOCS1):c.*664T>C rs148100667 0.00004
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) rs574721812 0.00004
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001358530.2(MOCS1):c.*1502A>G rs966816102 0.00003
NM_001358530.2(MOCS1):c.*1942C>T rs764671362 0.00003
NM_001358530.2(MOCS1):c.*2074A>G rs527715928 0.00003
NM_001358530.2(MOCS1):c.*638C>G rs886061386 0.00003
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724 0.00003
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) rs201036100 0.00003
NM_001358530.2(MOCS1):c.*1063T>A rs886061383 0.00002
NM_001358530.2(MOCS1):c.*1436C>T rs886061380 0.00002
NM_001358530.2(MOCS1):c.*1752C>G rs1291765153 0.00002
NM_001358530.2(MOCS1):c.*803C>T rs990062943 0.00002
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745 0.00002
NM_001358530.2(MOCS1):c.*1835T>G rs1466775644 0.00001
NM_001358530.2(MOCS1):c.*2A>G rs767003803 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) rs886061389 0.00001
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711 0.00001
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) rs368942024 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001358530.2(MOCS1):c.*1046A>T rs1766803869
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1341T>A rs1766761624
NM_001358530.2(MOCS1):c.*1629G>A rs3793137
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1878G>A rs886061378
NM_001358530.2(MOCS1):c.*282T>C rs200673409
NM_001358530.2(MOCS1):c.*739C>T rs886061385
NM_001358530.2(MOCS1):c.*76T>C rs1766923347
NM_001358530.2(MOCS1):c.1102+1_1102+2del rs1562086288
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) rs149586823
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp) rs1767003395
NM_001358530.2(MOCS1):c.124-176A>T rs1768410085
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) rs780148535
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) rs754387991
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) rs886061388
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.418+3G>A rs1378867002
NM_001358530.2(MOCS1):c.418+5G>A
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln) rs1767419049

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