ClinVar Miner

List of variants studied for Molybdenum cofactor deficiency, complementation group A by Illumina Clinical Services Laboratory,Illumina

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Total variants: 116
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HGVS dbSNP
NM_001358530.2(MOCS1):c.*1002C>T rs115706925
NM_001358530.2(MOCS1):c.*1003G>A rs374341048
NM_001358530.2(MOCS1):c.*1046A>T
NM_001358530.2(MOCS1):c.*1063T>A rs886061383
NM_001358530.2(MOCS1):c.*1067A>C rs754337805
NM_001358530.2(MOCS1):c.*1113T>G rs3828937
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1136A>C rs60326448
NM_001358530.2(MOCS1):c.*120C>T
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1307A>G
NM_001358530.2(MOCS1):c.*1334A>C rs3749999
NM_001358530.2(MOCS1):c.*1341T>A
NM_001358530.2(MOCS1):c.*135T>G rs370974142
NM_001358530.2(MOCS1):c.*1405G>C rs3749998
NM_001358530.2(MOCS1):c.*1424C>G rs151159237
NM_001358530.2(MOCS1):c.*142C>G
NM_001358530.2(MOCS1):c.*1436C>T rs886061380
NM_001358530.2(MOCS1):c.*1445C>T rs575187638
NM_001358530.2(MOCS1):c.*1502A>G
NM_001358530.2(MOCS1):c.*1628C>T rs766403739
NM_001358530.2(MOCS1):c.*1629G>A
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1752C>G
NM_001358530.2(MOCS1):c.*1808G>A
NM_001358530.2(MOCS1):c.*1832G>A
NM_001358530.2(MOCS1):c.*1835T>G
NM_001358530.2(MOCS1):c.*1857G>A rs193217053
NM_001358530.2(MOCS1):c.*1878G>A rs886061378
NM_001358530.2(MOCS1):c.*1884G>A
NM_001358530.2(MOCS1):c.*1893G>C rs3008816
NM_001358530.2(MOCS1):c.*1909A>G rs73732316
NM_001358530.2(MOCS1):c.*1911C>A
NM_001358530.2(MOCS1):c.*1928C>G rs73414848
NM_001358530.2(MOCS1):c.*1942C>T rs764671362
NM_001358530.2(MOCS1):c.*1954G>A
NM_001358530.2(MOCS1):c.*2074A>G
NM_001358530.2(MOCS1):c.*282T>C
NM_001358530.2(MOCS1):c.*2A>G rs767003803
NM_001358530.2(MOCS1):c.*326C>T
NM_001358530.2(MOCS1):c.*327G>A rs112129067
NM_001358530.2(MOCS1):c.*378G>A rs11968529
NM_001358530.2(MOCS1):c.*400C>T rs764443066
NM_001358530.2(MOCS1):c.*451C>T rs41273136
NM_001358530.2(MOCS1):c.*477C>T rs184315150
NM_001358530.2(MOCS1):c.*523T>C
NM_001358530.2(MOCS1):c.*578C>T rs147395035
NM_001358530.2(MOCS1):c.*633C>T
NM_001358530.2(MOCS1):c.*638C>G rs886061386
NM_001358530.2(MOCS1):c.*659A>G
NM_001358530.2(MOCS1):c.*664T>C rs148100667
NM_001358530.2(MOCS1):c.*734C>G rs1063171
NM_001358530.2(MOCS1):c.*739C>T rs886061385
NM_001358530.2(MOCS1):c.*756A>C
NM_001358530.2(MOCS1):c.*762G>A rs115429345
NM_001358530.2(MOCS1):c.*76T>C
NM_001358530.2(MOCS1):c.*803C>T
NM_001358530.2(MOCS1):c.*824C>G rs11968491
NM_001358530.2(MOCS1):c.*826A>C
NM_001358530.2(MOCS1):c.*84A>G rs752606397
NM_001358530.2(MOCS1):c.*888C>T
NM_001358530.2(MOCS1):c.*987C>T rs7758412
NM_001358530.2(MOCS1):c.*990T>C rs192141515
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln)
NM_001358530.2(MOCS1):c.1102+1_1102+2del rs1562086288
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp)
NM_001358530.2(MOCS1):c.124-167C>T
NM_001358530.2(MOCS1):c.124-176A>T
NM_001358530.2(MOCS1):c.124-216A>G rs3008822
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) rs886061389
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp)
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter)
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021
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.162G>A (p.Ala54=) rs200316862
NM_001358530.2(MOCS1):c.1668C>T (p.His556=)
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys)
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=)
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949
NM_001358530.2(MOCS1):c.583+10T>A rs34757428
NM_001358530.2(MOCS1):c.583+12T>C
NM_001358530.2(MOCS1):c.583+6C>T rs111409017
NM_001358530.2(MOCS1):c.583+7G>A
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile)
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.758-9C>T rs368402544
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln)
NM_001358530.2(MOCS1):c.981+12C>T rs377628500

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