ClinVar Miner

List of variants studied for Dihydropyrimidinase deficiency by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter) rs201280871 0.00004
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) rs200913682

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