ClinVar Miner

List of variants reported as likely pathogenic for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (1):

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)	rs372246702	0.00006
NM_001358530.2(MOCS1):c.1150+20G>A	rs752653792	0.00001

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