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
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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

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