ClinVar Miner

List of variants reported as pathogenic for anemia due to erythrocyte enzyme disorder by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000175.5(GPI):c.14C>T (p.Thr5Ile) rs267606852 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379 0.00001
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) rs771145576 0.00001
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.-26-193C>A rs397515350 0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) rs751972865 0.00001
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) rs121964925 0.00001
NM_001724.5(BPGM):c.269G>A (p.Arg90His) rs781222092 0.00001
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
NC_000001.11:g.155301478C>G rs2148221101
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.1615G>A (p.Asp539Asn) rs137853585
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.497_591+1del
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.1341+1G>T rs755419857
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.428-2A>C rs895690691
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.826del (p.Val276fs) rs754939638
NM_000365.6(TPI1):c.32dup (p.Asn12fs) rs587777441
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter) rs121964850
NM_000365.6(TPI1):c.511A>G (p.Ile171Val) rs121964849
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser) rs587777440
NM_000375.2(UROS):c.148_244del rs2133941461
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
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.743C>A (p.Pro248Gln) rs121908021
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) rs121909533
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) rs121909534
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
PKLR, 1-BP DEL
UROS, 80-BP INS

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