ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by OMIM

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP
GSS, 1-BP DEL, NT3/4G
HK1, 96-BP DEL
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.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.373C>T (p.Arg125Cys) rs28936396
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
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.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
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.1151C>T (p.Thr384Met) rs74315362
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.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.-203T>C rs397515348
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.10C>T (p.Leu4Phe) rs121908015
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.395-1dup rs796051859
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.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.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
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.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
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_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950
NM_033500.2(HK1):c.1550T>C (p.Leu517Ser) rs137853249
NM_033500.2(HK1):c.2003C>G (p.Thr668Ser) rs398122379
NM_184041.4(ALDOA):c.386A>G (p.Asp129Gly) rs121909533
NM_184041.4(ALDOA):c.619G>A (p.Glu207Lys) rs121909534
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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