ClinVar Miner

List of variants in gene DAAM2, MOCS1 studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_001358530.2(MOCS1):c.*1909A>G rs73732316 0.02000
NM_001358530.2(MOCS1):c.*1911C>A rs188855912 0.00654
NM_001358530.2(MOCS1):c.*1857G>A rs193217053 0.00025
NM_001358530.2(MOCS1):c.*1808G>A rs752267060 0.00022
NM_001358530.2(MOCS1):c.*1954G>A rs189856931 0.00011
NM_001358530.2(MOCS1):c.*1628C>T rs766403739 0.00009
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.*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.*1752C>G rs1291765153 0.00002
NM_001358530.2(MOCS1):c.*1835T>G rs1466775644 0.00001
NM_001358530.2(MOCS1):c.*1629G>A rs3793137
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1878G>A rs886061378

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