ClinVar Miner

List of variants studied for Dihydropyrimidinase deficiency by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.1469G>A (p.Arg490His) rs189448963 0.00021
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) rs121964924 0.00004
NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg) rs121964923 0.00002
NM_001385.3(DPYS):c.750G>A (p.Met250Ile) rs751371011 0.00001
NM_001385.3(DPYS):c.1235G>T (p.Arg412Met) rs267606774
NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg) rs267606773
NM_001385.3(DPYS):c.175G>T (p.Val59Phe) rs1321466782

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