List of variants in gene DPYD reported as uncertain significance for dihydropyrimidine dehydrogenase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_000110.4(DPYD):c.496A>G (p.Met166Val)	rs2297595	0.08071
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile)	rs61622928	0.02183
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	rs1801158	0.01380
NM_000110.4(DPYD):c.*1062A>G	rs41285690	0.01134
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	rs115232898	0.00622
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)	rs45589337	0.00513
NM_000110.4(DPYD):c.*432T>A	rs188501488	0.00391
NM_000110.4(DPYD):c.*159A>G	rs55938520	0.00324
NM_000110.4(DPYD):c.*783G>T	rs137984871	0.00225
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn)	rs199777072	0.00130
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu)	rs146356975	0.00078
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp)	rs200562975	0.00049
NM_000110.4(DPYD):c.*635T>A	rs535104911	0.00044
NM_000110.4(DPYD):c.*1046C>A	rs55992536	0.00037
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg)	rs142619737	0.00032
NM_000110.4(DPYD):c.2180-11G>A	rs377136032	0.00032
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)	rs144395748	0.00031
NM_000110.4(DPYD):c.*586C>T	rs886046571	0.00026
NM_000110.4(DPYD):c.1905C>T (p.Asn635=)	rs3918289	0.00021
NM_000110.4(DPYD):c.*665G>A	rs886046570	0.00013
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala)	rs143986398	0.00013
NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln)	rs199646142	0.00012
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	rs56005131	0.00011
NM_000110.4(DPYD):c.*852C>T	rs886046569	0.00010
NM_000110.4(DPYD):c.*476G>A	rs753289746	0.00009
NM_000110.4(DPYD):c.345G>C (p.Met115Ile)	rs377169736	0.00009
NM_000110.4(DPYD):c.2049C>G (p.Ala683=)	rs183475941	0.00008
NM_000110.4(DPYD):c.*390A>G	rs1407236928	0.00007
NM_000110.4(DPYD):c.484-5C>T	rs767955683	0.00007
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)	rs59086055	0.00006
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln)	rs138616379	0.00006
NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser)	rs138545885	0.00006
NM_000110.4(DPYD):c.2071G>T (p.Val691Leu)	rs202212118	0.00006
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)	rs141044036	0.00006
NM_000110.4(DPYD):c.*193A>C	rs886046574	0.00005
NM_000110.4(DPYD):c.*242G>A	rs886046573	0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)	rs72549304	0.00004
NM_000110.4(DPYD):c.1614C>T (p.Ala538=)	rs760853559	0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	rs777425216	0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)	rs367619008	0.00004
NM_000110.4(DPYD):c.474T>C (p.Phe158=)	rs190771411	0.00004
NM_000110.4(DPYD):c.483+5G>A	rs373218392	0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)	rs1801266	0.00004
NM_000110.4(DPYD):c.995G>A (p.Arg332Gln)	rs747633945	0.00004
NM_000110.4(DPYD):c.1369A>G (p.Asn457Asp)	rs750147471	0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)	rs147601618	0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	rs1801267	0.00003
NM_000110.4(DPYD):c.*673G>A	rs976162155	0.00002
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)	rs72549305	0.00002
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)	rs547099198	0.00002
NM_000110.4(DPYD):c.545T>A (p.Met182Lys)	rs779728902	0.00002
NM_000110.4(DPYD):c.639C>T (p.Asp213=)	rs190048823	0.00002
NM_000110.4(DPYD):c.*1153A>G	rs1203563572	0.00001
NM_000110.4(DPYD):c.*282A>G	rs886046572	0.00001
NM_000110.4(DPYD):c.*458T>A	rs1648944201	0.00001
NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn)	rs183385770	0.00001
NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro)	rs771885007	0.00001
NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly)	rs1354585423	0.00001
NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr)	rs200709381	0.00001
NM_000110.4(DPYD):c.1525-9A>G	rs56056384	0.00001
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val)	rs760663364	0.00001
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser)	rs672601282	0.00001
NM_000110.4(DPYD):c.1733T>C (p.Leu578Pro)	rs778754188	0.00001
NM_000110.4(DPYD):c.2186C>T (p.Ala729Val)	rs146529561	0.00001
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln)	rs267598786	0.00001
NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile)	rs112766203	0.00001
NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr)	rs571114616	0.00001
NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg)	rs919596571	0.00001
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro)	rs886046575	0.00001
NM_000110.4(DPYD):c.48G>A (p.Leu16=)	rs763165014	0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	rs72549307	0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	rs755416212	0.00001
NM_000110.4(DPYD):c.762+5A>T	rs1033092437	0.00001
NM_000110.4(DPYD):c.*1000A>G	rs1648902933
NM_000110.4(DPYD):c.*1010T>G	rs1648902342
NM_000110.4(DPYD):c.*1050A>T	rs1648901054
NM_000110.4(DPYD):c.*1189G>A	rs570164196
NM_000110.4(DPYD):c.*416C>A	rs1648946118
NM_000110.4(DPYD):c.*503A>T	rs1648935697
NM_000110.4(DPYD):c.*626G>A	rs1648927388
NM_000110.4(DPYD):c.1027A>T (p.Thr343Ser)	rs886046580
NM_000110.4(DPYD):c.1070G>A (p.Arg357His)	rs377143350
NM_000110.4(DPYD):c.1220A>G (p.Gln407Arg)	rs886046579
NM_000110.4(DPYD):c.1228C>T (p.Arg410Trp)	rs528430685
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val)	rs1290815802
NM_000110.4(DPYD):c.1340-14A>C	rs886046578
NM_000110.4(DPYD):c.1349C>G (p.Ala450Gly)	rs72975710
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val)	rs72975710
NM_000110.4(DPYD):c.1503G>A (p.Trp501Ter)	rs1557790713
NM_000110.4(DPYD):c.1538C>G (p.Ala513Gly)	rs760663364
NM_000110.4(DPYD):c.1580C>T (p.Pro527Leu)	rs886046577
NM_000110.4(DPYD):c.1757T>C (p.Val586Ala)
NM_000110.4(DPYD):c.1764del (p.Arg589fs)	rs1346124437
NM_000110.4(DPYD):c.1905+17A>G
NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)
NM_000110.4(DPYD):c.2084G>T (p.Cys695Phe)	rs1336020354
NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly)	rs1553251908
NM_000110.4(DPYD):c.2183G>T (p.Gly728Val)
NM_000110.4(DPYD):c.2193C>T (p.Gly731=)	rs139543981
NM_000110.4(DPYD):c.2357C>A (p.Pro786His)	rs777673186
NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile)	rs886046576
NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly)	rs762911226
NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp)	rs1649223892
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)	rs748639205
NM_000110.4(DPYD):c.2908-1G>A	rs1553209268
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs)	rs1459699844
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)	rs114096998
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser)	rs114096998
NM_000110.4(DPYD):c.328T>C (p.Tyr110His)
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu)	rs376073289
NM_000110.4(DPYD):c.739C>T (p.Leu247=)	rs376128878
NM_000110.4(DPYD):c.850+13C>T	rs1660302424

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