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
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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

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