ClinVar Miner

List of variants reported as pathogenic for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp) rs779592342 0.00001
NM_001358530.2(MOCS1):c.367del (p.Arg123fs)

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