ClinVar Miner

List of variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu)

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