List of variants reported as pathogenic for dihydropyrimidinuria

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Total variants: 11

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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.1137C>A (p.Ser379Arg)	rs201258823	0.00016
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys)	rs142574766	0.00010
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	rs121964924	0.00004
NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter)	rs201280871	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
NM_001385.3(DPYS):c.502T>C (p.Tyr168His)

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