ClinVar Miner

List of variants studied for anemia due to enzyme disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_020897.3(HCN3):c.*1069C>T rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200 0.09809
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_020897.3(HCN3):c.*1216A>C rs41264939 0.00637
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000375.3(UROS):c.63+8G>A rs17153575 0.00410
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
NM_000289.6(PFKM):c.*411G>A rs79507126 0.00345
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_001365304.2(LOC112694756):c.*1740C>T rs191226606 0.00274
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000298.6(PKLR):c.*14C>T rs8177994 0.00166
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_000365.6(TPI1):c.*219C>T rs376899563 0.00127
NM_020897.3(HCN3):c.*1042A>G rs559809916 0.00122
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000365.6(TPI1):c.192G>A (p.Ala64=) rs149190846 0.00102
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_000375.3(UROS):c.475+14T>A rs17425877 0.00091
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000298.6(PKLR):c.-26C>T rs200181342 0.00045
NM_000289.6(PFKM):c.*622G>A rs568063197 0.00043
NM_000375.3(UROS):c.*178G>A rs569628154 0.00041
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000298.6(PKLR):c.*582G>A rs758139094 0.00036
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000375.3(UROS):c.*99A>G rs886046814 0.00032
NM_000289.5(PFKM):c.-174G>A rs765876195 0.00031
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_000375.3(UROS):c.106T>G (p.Leu36Val) rs200858139 0.00028
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646 0.00026
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_001365304.2(LOC112694756):c.*1700C>T rs886051897 0.00024
NM_000289.6(PFKM):c.*452T>C rs563335260 0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000298.6(PKLR):c.965+12G>A rs200039500 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000298.6(PKLR):c.*499G>A rs777573500 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_020897.3(HCN3):c.*1243A>G rs886045347 0.00019
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_020897.3(HCN3):c.*1374T>C rs180944719 0.00014
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000365.6(TPI1):c.543+6C>T rs369693539 0.00013
NM_001365304.2(LOC112694756):c.*1680C>T rs886051896 0.00013
NM_020897.3(HCN3):c.*1068G>A rs528740550 0.00013
NM_000298.6(PKLR):c.1117-13C>T rs145132664 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000289.6(PFKM):c.*3C>T rs367783282 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00011
NM_000289.6(PFKM):c.-17G>C rs952485517 0.00010
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_001365304.2(LOC112694756):c.*1676T>G rs886051895 0.00010
NM_001365304.2(LOC112694756):c.*1705G>A rs539833998 0.00009
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_000365.6(TPI1):c.*253G>T rs782730165 0.00006
NM_000375.3(UROS):c.-232G>A rs886046815 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) rs374805791 0.00005
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) rs774192277 0.00005
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000298.6(PKLR):c.*342C>T rs879040355 0.00004
NM_000298.6(PKLR):c.*346_*348del rs556763356 0.00004
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_000289.6(PFKM):c.*668G>T rs535423254 0.00003
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612 0.00003
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000365.6(TPI1):c.*260G>A rs782764628 0.00003
NM_000365.6(TPI1):c.599C>T (p.Ala200Val) rs139532537 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00003
NM_020897.3(HCN3):c.*1004C>T rs937795186 0.00003
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000375.3(UROS):c.*24A>G rs760003189 0.00002
NM_000375.3(UROS):c.-134C>A rs985442867 0.00002
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_000289.6(PFKM):c.*532A>G rs927525907 0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) rs1225653591 0.00001
NM_000298.6(PKLR):c.*275C>T rs886045350 0.00001
NM_000298.6(PKLR):c.-31G>A rs778164541 0.00001
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674 0.00001
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) rs763466930 0.00001
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) rs768210809 0.00001
NM_000365.6(TPI1):c.*239C>T rs886049811 0.00001
NM_000365.6(TPI1):c.*69C>T rs782061169 0.00001
NM_000365.6(TPI1):c.1A>G (p.Met1Val) rs201432576 0.00001
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 0.00001
NM_000375.3(UROS):c.*56T>C rs1436191296 0.00001
NM_000375.3(UROS):c.*92T>G rs887568142 0.00001
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00001
NM_000375.3(UROS):c.169G>A (p.Gly57Arg) rs200322717 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042 0.00001
NM_000375.3(UROS):c.53C>T (p.Pro18Leu) rs766540245 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_020897.3(HCN3):c.*1330G>T rs886045348 0.00001
NM_020897.3(HCN3):c.*832C>T rs917244300 0.00001
NM_000289.5(PFKM):c.-176C>T rs886049451
NM_000289.5(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*564G>A rs1951034681
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) rs1950621584
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G rs8177994
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C rs1674470980
NM_000298.6(PKLR):c.*500C>T rs1674463281
NM_000298.6(PKLR):c.1117-4C>G rs1572054195
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) rs1220156417
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.966-12C>T rs1188767860
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) rs763964110
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974
NM_000365.6(TPI1):c.*134C>A rs782308993
NM_000365.6(TPI1):c.*173G>A rs1191018741
NM_000365.6(TPI1):c.*520T>C rs1944574698
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.558C>T (p.His186=) rs369241009
NM_000375.3(UROS):c.-195C>A rs1227442865
NM_000375.3(UROS):c.-224C>T rs1854170338
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001365304.2(LOC112694756):c.*888+17del rs886051891
NM_020897.3(HCN3):c.*1354A>G rs1674455124

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