ClinVar Miner

List of variants reported as likely benign for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)	rs41285470	0.00586
NM_001358530.2(MOCS1):c.124-69G>A	rs45487695	0.00266
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser)	rs150226537	0.00100

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