ClinVar Miner

List of variants reported as likely benign 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: 14
Download table as spreadsheet
HGVS dbSNP
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_001159287.1(TPI1):c.432T>C (p.Asp144=) rs141972556
NM_001159287.1(TPI1):c.655-10C>G rs115061797
NM_001159287.1(TPI1):c.655-14G>A rs72661109
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.742+13G>A rs60115912
NM_001166686.2(PFKM):c.206-3523C>A rs41291959
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) rs11907253
NM_184041.4(ALDOA):c.1038C>T (p.Ser346=) rs77290575

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.