ClinVar Miner

List of variants reported as uncertain significance for anemia due to erythrocyte enzyme disorder by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP
NM_000178.2(GSS):c.4delG (p.Ala2Profs) rs752560204
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.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.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000289.5(PFKM):c.*134G>A rs886049456
NM_000289.5(PFKM):c.*3C>T rs367783282
NM_000289.5(PFKM):c.*489T>A rs886049457
NM_000289.5(PFKM):c.*503G>T rs747797192
NM_000289.5(PFKM):c.*622G>A rs568063197
NM_000289.5(PFKM):c.*98G>A rs886049455
NM_000289.5(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.5(PFKM):c.1063-7C>T rs776228408
NM_000289.5(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.5(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.5(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.5(PFKM):c.2199-12A>G rs202008060
NM_000289.5(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.5(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.5(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.5(PFKM):c.638+15C>A rs376150217
NM_000289.5(PFKM):c.820A>G (p.Ile274Val) rs142868881
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_000298.5(PKLR):c.*1041C>T rs528740550
NM_000298.5(PKLR):c.*1067T>C rs559809916
NM_000298.5(PKLR):c.*13T>G rs1052177
NM_000298.5(PKLR):c.*14C>T rs8177994
NM_000298.5(PKLR):c.*275C>T rs886045350
NM_000298.5(PKLR):c.*342C>T rs879040355
NM_000298.5(PKLR):c.*346_*348delAGG rs556763356
NM_000298.5(PKLR):c.*351T>A rs886045349
NM_000298.5(PKLR):c.*499G>A rs777573500
NM_000298.5(PKLR):c.*582G>A rs758139094
NM_000298.5(PKLR):c.*779C>A rs886045348
NM_000298.5(PKLR):c.*866T>C rs886045347
NM_000298.5(PKLR):c.*893T>G rs41264939
NM_000298.5(PKLR):c.-26C>T rs200181342
NM_000298.5(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.5(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.5(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.5(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.5(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.5(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.5(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.5(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.5(PKLR):c.284-9T>C rs886045352
NM_000298.5(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.5(PKLR):c.6G>A (p.Ser2=) rs139697646
NM_000298.5(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.5(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.5(PKLR):c.909G>C (p.Pro303=) rs200840994
NM_000298.5(PKLR):c.918C>A (p.His306Gln) rs141571402
NM_000298.5(PKLR):c.965+12G>A rs200039500
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
NM_000365.5(TPI1):c.*178G>A rs144171030
NM_000365.5(TPI1):c.*239C>T rs886049811
NM_000365.5(TPI1):c.*260G>A rs782764628
NM_000365.5(TPI1):c.*541dupA rs201871949
NM_000365.5(TPI1):c.*542_*544delCAA rs782559646
NM_000365.5(TPI1):c.*69C>T rs782061169
NM_000365.5(TPI1):c.-11G>A rs199634350
NM_000365.5(TPI1):c.-29C>T rs181882616
NM_000365.5(TPI1):c.239+8C>A rs782359362
NM_000365.5(TPI1):c.261C>T (p.Cys87=) rs370863694
NM_000365.5(TPI1):c.543+5C>G rs782153322
NM_000365.5(TPI1):c.543+6C>T rs369693539
NM_000375.2(UROS):c.*178G>A rs569628154
NM_000375.2(UROS):c.*24A>G rs760003189
NM_000375.2(UROS):c.*37G>T rs372132511
NM_000375.2(UROS):c.*99A>G rs886046814
NM_000375.2(UROS):c.-136C>T rs539482783
NM_000375.2(UROS):c.-232G>A rs886046815
NM_000375.2(UROS):c.-27+10G>A rs376517536
NM_000375.2(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.2(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.2(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.2(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.2(UROS):c.475+14T>A rs17425877
NM_000375.2(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.2(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_001243177.2(ALDOA):c.*136C>T rs191226606
NM_001243177.2(ALDOA):c.1107C>T (p.Gly369=) rs142315181
NM_001243177.2(ALDOA):c.1134G>A (p.Ala378=) rs530089317
NM_001243177.2(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667
NM_001243177.2(ALDOA):c.219C>T (p.Ile73=) rs773402743
NM_001243177.2(ALDOA):c.223C>T (p.His75Tyr) rs766734350
NM_001243177.2(ALDOA):c.312G>A (p.Glu104=) rs779556052
NM_001243177.2(ALDOA):c.910G>A (p.Ala304Thr) rs886051893
NM_032609.2(COX4I2):c.-70C>T rs577065484
NM_032609.2(COX4I2):c.1-6C>T rs201853480
NM_032609.2(COX4I2):c.167A>C (p.Glu56Ala) rs751781798
NM_032609.2(COX4I2):c.231C>T (p.His77=) rs201106165
NM_032609.2(COX4I2):c.345C>T (p.Phe115=) rs765094514
NM_032609.2(COX4I2):c.396G>A (p.Pro132=) rs150196183
NM_032609.2(COX4I2):c.430C>G (p.Leu144Val) rs751561918
NM_032609.2(COX4I2):c.463G>C (p.Val155Leu) rs886056575
NM_032609.2(COX4I2):c.83-8_83-7delGT rs528430338
NM_184041.2(ALDOA):c.*101G>A rs539833998
NM_184041.2(ALDOA):c.*72T>G rs886051895
NM_184041.2(ALDOA):c.*76C>T rs886051896
NM_184041.2(ALDOA):c.*96C>T rs886051897
NM_184041.2(ALDOA):c.113-5C>T rs752764982
NM_184041.2(ALDOA):c.202G>C (p.Asp68His) rs201468609
NM_184041.2(ALDOA):c.275G>A (p.Arg92His) rs747482925
NM_184041.2(ALDOA):c.379+17delT rs886051891
NM_184041.2(ALDOA):c.477C>G (p.Pro159=) rs758499704
NM_184041.2(ALDOA):c.497A>G (p.Glu166Gly) rs886051892
NM_184041.2(ALDOA):c.64C>T (p.Arg22Cys) rs145582724
NM_184041.2(ALDOA):c.906C>T (p.Tyr302=) rs200761497
NM_184041.2(ALDOA):c.958A>T (p.Asn320Tyr) rs886051894

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