ClinVar Miner

List of variants in gene MOCS1 studied for Combined molybdoflavoprotein enzyme deficiency

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334 0.04461
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.*423C>A rs886061387 0.00003
NM_001358530.2(MOCS1):c.*1062_*1063dup rs886061382
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1433T>A rs745650301
NM_001358530.2(MOCS1):c.*523TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*759_*761dup rs543804008
NM_001358530.2(MOCS1):c.*771_*772dup rs886061384
NM_001358530.2(MOCS1):c.*908AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*908AATC[5] rs3839624
NM_001358530.2(MOCS1):c.124-124_124-123del

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