ClinVar Miner

List of variants in gene DPYD reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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.1905C>T (p.Asn635=) rs3918289 0.00021
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00019
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.*586C>T rs886046571 0.00010
NM_000110.4(DPYD):c.*852C>T rs886046569 0.00010
NM_000110.4(DPYD):c.345G>C (p.Met115Ile) rs377169736 0.00010
NM_000110.4(DPYD):c.*476G>A rs753289746 0.00009
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.*242G>A rs886046573 0.00006
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 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.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.1555C>T (p.Pro519Ser) rs672601282 0.00003
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln) rs138616379 0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) rs547099198 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.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.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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