ClinVar Miner

List of variants reported as benign for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
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.516C>T (p.Thr172=) rs1049392
NM_000298.6(PKLR):c.*1040G>A rs8847
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*267C>T rs932972
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-219C>A rs4385801
NM_001159287.1(TPI1):c.*341C>T rs1804544
NM_001159287.1(TPI1):c.*420T>C rs58194764
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200
NM_001166686.2(PFKM):c.206-3464T>G rs12306290
NM_184041.4(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184041.4(ALDOA):c.249A>G (p.Thr83=) rs76767223

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.