ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000289.5(PFKM):c.2093-14A>G rs11168427
NM_000289.5(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.5(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.-112T>G rs12306290
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507

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