ClinVar Miner

List of variants reported as likely benign for anemia due to erythrocyte enzyme disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
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_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
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_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00001
NM_000298.6(PKLR):c.375+10G>T rs8177971

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.