ClinVar Miner

List of variants reported as pathogenic for dihydropyrimidinuria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):

Dihydropyrimidinase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	rs61758444	0.00011
NM_001385.3(DPYS):c.568C>T (p.Gln190Ter)	rs771160155	0.00001

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