ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 301
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HGVS dbSNP
GSS, 1-BP DEL, NT3/4G
HK1, 96-BP DEL
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705
NM_000175.5(GPI):c.14C>T (p.Thr5Ile) rs267606852
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634
NM_000178.4(GSS):c.*181C>T rs773689812
NM_000178.4(GSS):c.*2G>A rs36000727
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*69G>T rs200882573
NM_000178.4(GSS):c.*90A>G rs35747685
NM_000178.4(GSS):c.-16G>A rs575728230
NM_000178.4(GSS):c.-18A>G rs886056640
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-46A>G rs886056642
NM_000178.4(GSS):c.-63G>C rs192442930
NM_000178.4(GSS):c.-80G>C rs570588543
NM_000178.4(GSS):c.-9+5G>A rs1555889738
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr)
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) rs930264754
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-112T>G rs12306290
NM_000289.6(PFKM):c.-171C>A rs41291959
NM_000289.6(PFKM):c.-174G>A rs765876195
NM_000289.6(PFKM):c.-176C>T rs886049451
NM_000289.6(PFKM):c.-177G>C rs78512814
NM_000289.6(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1191+1G>A
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000298.6(PKLR):c.*1040G>A rs8847
NM_000298.6(PKLR):c.*1041C>T rs528740550
NM_000298.6(PKLR):c.*1067T>C rs559809916
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>T rs8177994
NM_000298.6(PKLR):c.*267C>T rs932972
NM_000298.6(PKLR):c.*275C>T rs886045350
NM_000298.6(PKLR):c.*342C>T rs879040355
NM_000298.6(PKLR):c.*346_*348del rs556763356
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*499G>A rs777573500
NM_000298.6(PKLR):c.*582G>A rs758139094
NM_000298.6(PKLR):c.*779C>A rs886045348
NM_000298.6(PKLR):c.*866T>C rs886045347
NM_000298.6(PKLR):c.*893T>G rs41264939
NM_000298.6(PKLR):c.-26C>T rs200181342
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.965+12G>A rs200039500
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.*178G>A rs569628154
NM_000375.3(UROS):c.*24A>G rs760003189
NM_000375.3(UROS):c.*37G>T rs372132511
NM_000375.3(UROS):c.*99A>G rs886046814
NM_000375.3(UROS):c.-136C>T rs539482783
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-232G>A rs886046815
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-193C>A rs397515350
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.-27+10G>A rs376517536
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.475+14T>A rs17425877
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.63+1G>A rs373864821
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000476.2(AK1):c.118G>A (p.Gly40Arg) rs137853204
NM_000476.2(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.2(AK1):c.190G>A (p.Gly64Arg) rs137853205
NM_000476.2(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.2(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.2(AK1):c.418_420GAC[1] (p.Asp141del) rs387906582
NM_000476.2(AK1):c.491A>G (p.Tyr164Cys) rs137853203
NM_001159287.1(TPI1):c.*178G>A rs144171030
NM_001159287.1(TPI1):c.*239C>T rs886049811
NM_001159287.1(TPI1):c.*260G>A rs782764628
NM_001159287.1(TPI1):c.*341C>T rs1804544
NM_001159287.1(TPI1):c.*420T>C rs58194764
NM_001159287.1(TPI1):c.*541dup rs201871949
NM_001159287.1(TPI1):c.*542_*544del rs782559646
NM_001159287.1(TPI1):c.*69C>T rs782061169
NM_001159287.1(TPI1):c.101G>A (p.Gly34Asp) rs199634350
NM_001159287.1(TPI1):c.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.350+8C>A rs782359362
NM_001159287.1(TPI1):c.372C>T (p.Cys124=) rs370863694
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.432T>C (p.Asp144=) rs141972556
NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) rs121964850
NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) rs121964849
NM_001159287.1(TPI1):c.654+5C>G rs782153322
NM_001159287.1(TPI1):c.654+6C>T rs369693539
NM_001159287.1(TPI1):c.655-10C>G rs115061797
NM_001159287.1(TPI1):c.655-14G>A rs72661109
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln) rs1565538350
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200
NM_001159287.1(TPI1):c.728G>A (p.Arg243His) rs782417309
NM_001159287.1(TPI1):c.742+13G>A rs60115912
NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
NM_001159287.1(TPI1):c.83C>T (p.Thr28Ile) rs181882616
NM_001258026.1(TPI1):c.-122G>A rs121964848
NM_001498.4(GCLC):c.1109A>T (p.His370Leu) rs121907946
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) rs397518437
NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) rs104894025
NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) rs104894026
NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) rs104894027
NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) rs104894028
NM_016489.13(NT5C3A):c.577del (p.Asp193fs) rs397518438
NM_016489.13(NT5C3A):c.592-1G>C rs397518435
NM_016489.13(NT5C3A):c.592-1G>T rs397518435
NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) rs104894029
NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) rs397518436
NM_032609.2(COX4I2):c.-70C>T rs577065484
NM_032609.2(COX4I2):c.83-8_83-7delGT rs528430338
NM_032609.3(COX4I2):c.1-6C>T rs201853480
NM_032609.3(COX4I2):c.167A>C (p.Glu56Ala) rs751781798
NM_032609.3(COX4I2):c.231C>T (p.His77=) rs201106165
NM_032609.3(COX4I2):c.345C>T (p.Phe115=) rs765094514
NM_032609.3(COX4I2):c.396G>A (p.Pro132=) rs150196183
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950
NM_032609.3(COX4I2):c.430C>G (p.Leu144Val) rs751561918
NM_032609.3(COX4I2):c.463G>C (p.Val155Leu) rs886056575
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) rs11907253
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_033500.2(HK1):c.1550T>C (p.Leu517Ser) rs137853249
NM_033500.2(HK1):c.2003C>G (p.Thr668Ser) rs398122379
NM_184041.2(ALDOA):c.379+17delT rs886051891
NM_184041.4(ALDOA):c.*101G>A rs539833998
NM_184041.4(ALDOA):c.*136C>T rs191226606
NM_184041.4(ALDOA):c.*72T>G rs886051895
NM_184041.4(ALDOA):c.*76C>T rs886051896
NM_184041.4(ALDOA):c.*96C>T rs886051897
NM_184041.4(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184041.4(ALDOA):c.1039G>A (p.Gly347Ser) rs138824667
NM_184041.4(ALDOA):c.113-5C>T rs752764982
NM_184041.4(ALDOA):c.150G>A (p.Glu50=) rs779556052
NM_184041.4(ALDOA):c.202G>C (p.Asp68His) rs201468609
NM_184041.4(ALDOA):c.249A>G (p.Thr83=) rs76767223
NM_184041.4(ALDOA):c.275G>A (p.Arg92His) rs747482925
NM_184041.4(ALDOA):c.386A>G (p.Asp129Gly) rs121909533
NM_184041.4(ALDOA):c.477C>G (p.Pro159=) rs758499704
NM_184041.4(ALDOA):c.497A>G (p.Glu166Gly) rs886051892
NM_184041.4(ALDOA):c.57C>T (p.Ile19=) rs773402743
NM_184041.4(ALDOA):c.619G>A (p.Glu207Lys) rs121909534
NM_184041.4(ALDOA):c.61C>T (p.His21Tyr) rs766734350
NM_184041.4(ALDOA):c.64C>T (p.Arg22Cys) rs145582724
NM_184041.4(ALDOA):c.748G>A (p.Ala250Thr) rs886051893
NM_184041.4(ALDOA):c.760G>A (p.Val254Ile) rs142759891
NM_184041.4(ALDOA):c.906C>T (p.Tyr302=) rs200761497
NM_184041.4(ALDOA):c.945C>T (p.Gly315=) rs142315181
NM_184041.4(ALDOA):c.958A>T (p.Asn320Tyr) rs886051894
NM_184041.4(ALDOA):c.972G>A (p.Ala324=) rs530089317
NM_199186.2(BPGM):c.268C>T (p.Arg90Cys) rs121964925
PFKM, 1-BP DEL, 2003C
PFKM, IVS15DS, G-T, +1
PFKM, IVS5DS, G-A, +1
PFKM, IVS6AS, A-C, -2
PKLR, -83G-C
PKLR, 1-BP DEL
PKLR, 1-BP DEL, 823G
UROS, 80-BP INS
UROS, IVS9, T-G, -31

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