List of variants reported as uncertain significance for dihydropyrimidinuria

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001385.3(DPYS):c.264+5C>T	rs672601293	0.00116
NM_001385.3(DPYS):c.*205G>A	rs146388435	0.00049
NM_001385.3(DPYS):c.603+5G>A	rs377073619	0.00045
NM_001385.3(DPYS):c.*345A>T	rs758496769	0.00028
NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)	rs201457190	0.00021
NM_001385.3(DPYS):c.177C>G (p.Val59=)	rs568135080	0.00011
NM_001385.3(DPYS):c.*14G>A	rs372257678	0.00007
NM_001385.3(DPYS):c.342C>T (p.Phe114=)	rs538642538	0.00006
NM_001385.3(DPYS):c.381C>T (p.Cys127=)	rs151111879	0.00006
NM_001385.3(DPYS):c.*200T>C	rs577662244	0.00005
NM_001385.3(DPYS):c.131G>T (p.Gly44Val)	rs367711099	0.00005
NM_001385.3(DPYS):c.817A>G (p.Ile273Val)	rs201924473	0.00005
NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp)	rs559507379	0.00003
NM_001385.3(DPYS):c.529G>A (p.Glu177Lys)	rs765884757	0.00003
NM_001385.3(DPYS):c.111C>T (p.His37=)	rs370264718	0.00002
NM_001385.3(DPYS):c.*70A>T	rs781457040	0.00001
NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro)	rs765274405	0.00001
NM_001385.3(DPYS):c.242A>G (p.Asp81Gly)	rs951179754	0.00001
NM_001385.3(DPYS):c.264+10C>T	rs1013557835	0.00001
NM_001385.3(DPYS):c.461G>C (p.Gly154Ala)	rs781328295	0.00001
NM_001385.3(DPYS):c.166_169del	rs539754034
NM_001385.3(DPYS):c.*408A>G	rs555961371
NM_001385.3(DPYS):c.-93A>T	rs1814445185
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	rs79080341
NM_001385.3(DPYS):c.169A>G (p.Lys57Glu)	rs1814421258
NM_001385.3(DPYS):c.489C>T (p.Ala163=)	rs1442791817
NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr)	rs886062588

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