ClinVar Miner

List of variants studied for Dihydropyrimidinase deficiency by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	rs201258823	0.00016
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	rs79080341

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